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1. Biomedical articles (top 50; 2010 to 2015)
1. Blaydon DC, Lind LK, Plagnol V, Linton KJ, Smith FJ, Wilson NJ, McLean WH, Munro CS, South AP, Leigh IM, O'Toole EA, Lundström A, Kelsell DP: Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. Am J Hum Genet; 2013 Aug 8;93(2):330-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
  • Autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma is characterized by the adoption of a white, spongy appearance of affected areas upon exposure to water.
  • Immunofluorescence data reveal the presence of AQP5 at the plasma membrane in the stratum granulosum of both normal and affected palmar epidermis, indicating that the altered AQP5 proteins are trafficked in the normal manner.
  • We demonstrate here a role for AQP5 in the palmoplantar epidermis and propose that the altered AQP5 proteins retain the ability to form open channels in the cell membrane and conduct water.
  • [MeSH-major] Aquaporin 5 / genetics. Cell Membrane / metabolism. Epidermis / metabolism. Keratoderma, Palmoplantar, Diffuse / genetics. Mutation. Wrist / physiopathology

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  • [Copyright] Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
  • [Cites] Exp Dermatol. 1999 Oct;8(5):388-91 [10536965.001]
  • [Cites] PLoS One. 2013;8(4):e59897 [23565173.001]
  • [Cites] Lancet. 2000 Jun 17;355(9221):2119-24 [10902626.001]
  • [Cites] Nat Genet. 2000 Oct;26(2):142-4 [11017065.001]
  • [Cites] Hum Mol Genet. 2000 Nov 1;9(18):2761-6 [11063735.001]
  • [Cites] Am J Hum Genet. 2001 Oct;69(4):738-48 [11536078.001]
  • [Cites] J Leukoc Biol. 2002 Feb;71(2):212-22 [11818441.001]
  • [Cites] Nat Rev Mol Cell Biol. 2004 Sep;5(9):687-98 [15340377.001]
  • [Cites] J Cell Sci. 1992 Dec;103 ( Pt 4):953-64 [1487506.001]
  • [Cites] J Biol Chem. 1994 May 20;269(20):14648-54 [7514176.001]
  • [Cites] Hum Mol Genet. 1994 Oct;3(10):1789-93 [7531539.001]
  • [Cites] Hum Mol Genet. 1995 Jun;4(6):1021-5 [7544664.001]
  • [Cites] J Clin Invest. 1998 Jul 1;102(1):57-66 [9649557.001]
  • [Cites] Clin Dermatol. 2005 Jan-Feb;23(1):15-22 [15708285.001]
  • [Cites] Invest Ophthalmol Vis Sci. 2006 Oct;47(10):4365-72 [17003427.001]
  • [Cites] Proc Natl Acad Sci U S A. 2008 Mar 4;105(9):3345-50 [18305162.001]
  • [Cites] Curr Opin Struct Biol. 2008 Apr;18(2):229-35 [18194855.001]
  • [Cites] Proc Natl Acad Sci U S A. 2008 Sep 9;105(36):13327-32 [18768791.001]
  • [Cites] FEBS Lett. 2010 Jun 18;584(12):2580-8 [20416297.001]
  • [Cites] PLoS One. 2010;5(12):e14226 [21151978.001]
  • [Cites] J Cell Sci. 2011 Jan 15;124(Pt 2):198-206 [21172802.001]
  • [Cites] PLoS One. 2012;7(6):e38717 [22715407.001]
  • [Cites] Br J Dermatol. 2012 Sep;167(3):575-82 [22512866.001]
  • [Cites] J Med Genet. 2000 Jan;37(1):50-1 [10633135.001]
  • (PMID = 23830519.001).
  • [ISSN] 1537-6605
  • [Journal-full-title] American journal of human genetics
  • [ISO-abbreviation] Am. J. Hum. Genet.
  • [Language] eng
  • [Grant] United Kingdom / Wellcome Trust / / 098439; United Kingdom / Medical Research Council / / G0802780; United Kingdom / Medical Research Council / / G1001158; United Kingdom / Medical Research Council / / MC/ U120088463
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / AQP5 protein, human; 0 / Aquaporin 5; 059QF0KO0R / Water; Palmoplantar Keratoderma, Nonepidermolytic
  • [Other-IDs] NLM/ PMC3738836
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2. Blaydon DC, Etheridge SL, Risk JM, Hennies HC, Gay LJ, Carroll R, Plagnol V, McRonald FE, Stevens HP, Spurr NK, Bishop DT, Ellis A, Jankowski J, Field JK, Leigh IM, South AP, Kelsell DP: RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. Am J Hum Genet; 2012 Feb 10;90(2):340-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome.
  • Tylosis esophageal cancer (TOC) is an autosomal-dominant syndrome characterized by palmoplantar keratoderma, oral precursor lesions, and a high lifetime risk of esophageal cancer.
  • [MeSH-major] Esophageal Neoplasms / genetics. Keratoderma, Palmoplantar, Diffuse / genetics. Mutation, Missense. Serine Proteases / genetics

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  • [Copyright] Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
  • [Cites] Eur J Cancer B Oral Oncol. 1994;30B(2):102-12 [8032299.001]
  • [Cites] Cancer Lett. 2011 Nov 1;310(1):84-93 [21757289.001]
  • [Cites] Genomics. 1995 Sep 20;29(2):537-40 [8666405.001]
  • [Cites] J Cell Sci. 1995 Nov;108 ( Pt 11):3463-71 [8586658.001]
  • [Cites] Arch Dermatol. 1996 Jun;132(6):640-51 [8651714.001]
  • [Cites] Hum Mol Genet. 1996 Jun;5(6):857-60 [8776604.001]
  • [Cites] Oral Oncol. 1997 Jan;33(1):55-7 [9192554.001]
  • [Cites] Gastroenterology. 1998 Jun;114(6):1206-10 [9609757.001]
  • [Cites] Oncogene. 1998 Oct 22;17(16):2101-5 [9798681.001]
  • [Cites] Genomics. 1999 Jul 15;59(2):234-42 [10409435.001]
  • [Cites] Mol Carcinog. 2005 Jul;43(3):141-54 [15937959.001]
  • [Cites] Dev Dyn. 2005 Aug;233(4):1315-31 [15965977.001]
  • [Cites] FASEB J. 2009 Feb;23(2):425-32 [18832597.001]
  • [Cites] Exp Cell Res. 2009 Feb 15;315(4):572-82 [18778701.001]
  • [Cites] Int J Cancer. 2010 Dec 15;127(12):2893-917 [21351269.001]
  • [Cites] Cell. 2011 Apr 1;145(1):79-91 [21439629.001]
  • [Cites] J Cell Sci. 2011 Jun 1;124(Pt 11):1785-93 [21576352.001]
  • [Cites] Cell. 2001 Oct 19;107(2):173-82 [11672525.001]
  • [Cites] Mol Biol Cell. 2002 Mar;13(3):847-53 [11907266.001]
  • [Cites] Oncogene. 2002 Sep 12;21(41):6395-402 [12214281.001]
  • [Cites] Hum Genet. 2004 May;114(6):534-40 [15007728.001]
  • [Cites] Development. 1992 Oct;116(2):335-46 [1363086.001]
  • [Cites] EMBO J. 1988 Jun;7(6):1815-20 [2458921.001]
  • [Cites] Cell. 1975 Nov;6(3):331-43 [1052771.001]
  • [Cites] Int J Oncol. 2004 Aug;25(2):389-95 [15254736.001]
  • [Cites] Nature. 2003 May 29;423(6939):537-41 [12774122.001]
  • [Cites] Nat Genet. 1994 Dec;8(4):319-21 [7534553.001]
  • (PMID = 22265016.001).
  • [ISSN] 1537-6605
  • [Journal-full-title] American journal of human genetics
  • [ISO-abbreviation] Am. J. Hum. Genet.
  • [Language] eng
  • [Grant] United Kingdom / Cancer Research UK / / 10589; United Kingdom / Cancer Research UK / / 13044; United Kingdom / Cancer Research UK / / C5314/A6695; United Kingdom / Cancer Research UK / / C7738/A10476
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Untranslated Regions; EC 2.7.10.1 / EGFR protein, human; EC 2.7.10.1 / Receptor, Epidermal Growth Factor; EC 3.4.- / Serine Proteases; EC 3.4.21.105 / RHBDL2 protein, human
  • [Other-IDs] NLM/ PMC3276661
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3. Das A, Kumar D, Das NK: Diffuse non-epidermolytic palmoplantar keratoderma. Indian Pediatr; 2013 Oct;50(10):979
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Diffuse non-epidermolytic palmoplantar keratoderma.
  • [MeSH-major] Keratoderma, Palmoplantar, Diffuse / pathology


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4. Lee JY, In SI, Kim HJ, Jeong SY, Choung YH, Kim YC: Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26. J Korean Med Sci; 2010 Oct;25(10):1539-42
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.
  • A 3-yr-old Korean female and her mother presented to our clinic with diffuse hyperkeratosis of the palms and soles (May 3, 2007).
  • Skin biopsies from the soles of both patients demonstrated histopathological evidence of palmoplantar keratoderma.
  • The combination of congenital hearing loss and palmoplantar keratoderma, inherited as an autosomal dominant trait, led us to test for a mutation in the GJB2 gene in both patients.
  • In conclusion, the simultaneous occurrence of a GJB2 mutation in a mother and daughter suggests that R75W mutation cause autosomal dominant hearing loss presenting with palmoplantar keratoderma.
  • To the best of our knowledge, this is the first report of a GJB2 mutation associated with syndromic autosomal dominant hearing loss and palmoplantar keratoderma in a Korean family.
  • [MeSH-major] Connexins / genetics. Deafness / genetics. Keratoderma, Palmoplantar / genetics. Mutation


5. Cooper IF, Siadaty MS: 'Qualitative Concepts' associated with 'Diffuse Palmoplantar Keratoderma': Top Publications. BioMedLib Review; QualitativeConcept;DiffusePalmoplantarKeratoderma:706453978. ISSN: 2331-5717. 2014/10/27
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  • [Title] 'Qualitative Concepts' associated with 'Diffuse Palmoplantar Keratoderma': Top Publications.
  • [Transliterated title]
  • Background: There are articles published each month which present 'Qualitative Concept' for 'diffuse palmoplantar keratoderma'.
  • Finding such articles is important for researchers, clinicians, and patients.
  • However these articles are spread across thousands of journals, and there are many types of 'Qualitative Concept'.
  • This makes searching and locating the relevant publications a challenge.
  • We have used BioMedLib's semantic search technology to address the issue, and gathered all the pertinent publications in this review article.
  • Methods: We categorized the publications we found into two groups.
  • We used the strength of textual-association to separate the groups.
  • In group one there are publications with the strongest evidence of association. We focused finding the most relevant publications pertinent to our goal, rather than combining them into a conclusion section. Such textual synthesis will be the focus of our next project.
  • Results: Group one includes 20 publications, and group two 325 publications.
  • Here are the top 10.
  • Sun X et al: [Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family].
  • Richardson ES et al: A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.
  • Das A et al: Diffuse non-epidermolytic palmoplantar keratoderma.
  • Coonar AS et al: Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21.
  • Blaydon DC et al: Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
  • Engin H et al: Non-small-cell lung cancer with nonfamilial diffuse palmoplantar keratoderma.
  • Urbańska-Ryś H et al: Multiple myeloma in a patient with systemic lupus erythematosus, myasthenia gravis and non-familial diffuse palmoplantar keratoderma.
  • Liu XP et al: Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree.
  • Khanna SK et al: Nonfamilial diffuse palmoplantar keratoderma associated with bronchial carcinoma.
  • Lind L et al: The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13.

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  • [Copyright] Copyright 2014 Siadaty and Cooper; licensee BioMedLib LLC.
  • (UID = 706453978.001).
  • [ISSN] 2331-5717
  • [Journal-full-title] BioMedLib Review
  • [Language] eng
  • [Publication-type] Review
  • [Publication-country] UNITED STATES
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6. Lestre S, Lozano E, Meireles C, Barata Feio A: Autoimmune thyroiditis presenting as palmoplantar keratoderma. Case Rep Med; 2010;2010:604890
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Autoimmune thyroiditis presenting as palmoplantar keratoderma.
  • Palmoplantar keratoderma is a heterogeneous group of hereditary and acquired disorders characterized by abnormal thickening of palms and soles.
  • Hypothyroidism is an unusual cause of palmoplantar keratoderma, rarely reported in the literature.
  • We report a case of a 43-year-old woman presented with a 3-month history of a diffuse palmoplantar hyperkeratosis unresponsive to topical keratolytics and corticosteroids.
  • Other causes of acquired palmoplantar keratoderma were excluded.
  • The diagnosis of underlying causes for acquired palmoplantar keratoderma can be a difficult task; however its recognition is essential for successful treatment results.
  • Although a very rare association, hypothyroidism must be suspected in patients with acquired palmoplantar keratoderma, particularly when it occurs in association with systemic symptoms.

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  • [Cites] Clin Dermatol. 2005 Jan-Feb;23(1):15-22 [15708285.001]
  • [Cites] Mol Med Today. 1999 Mar;5(3):107-13 [10203734.001]
  • [Cites] Br J Dermatol. 2006 May;154(5):999-1000 [16634912.001]
  • [Cites] Am J Clin Dermatol. 2007;8(1):1-11 [17298101.001]
  • [Cites] Eur J Intern Med. 2009 Mar;20(2):158-61 [19327604.001]
  • [Cites] Arch Fam Med. 2000 Aug;9(8):743-7 [10927715.001]
  • [Cites] J Am Acad Dermatol. 2003 May;48(5):641-59; quiz 660-2 [12734493.001]
  • [Cites] J Endocrinol Invest. 2001 Sep;24(8):628-38 [11686547.001]
  • [Cites] Clin Exp Dermatol. 1977 Sep;2(3):287-8 [923157.001]
  • [Cites] Acta Derm Venereol. 1986;66(4):354-7 [2430412.001]
  • [Cites] Dermatologica. 1986;172(5):258-62 [2943612.001]
  • [Cites] Clin Exp Dermatol. 1988 Sep;13(5):339-41 [2978468.001]
  • [Cites] AMA Arch Derm Syphilol. 1952 Aug;66(2):197-203 [14943265.001]
  • [Cites] Br J Dermatol. 1998 Oct;139(4):741-2 [9892924.001]
  • [Cites] Medicina (B Aires). 2005;65(1):47-8 [15830793.001]
  • (PMID = 20300544.001).
  • [ISSN] 1687-9635
  • [Journal-full-title] Case reports in medicine
  • [ISO-abbreviation] Case Rep Med
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Other-IDs] NLM/ PMC2838360
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7. Shimomura Y, Wajid M, Weiser J, Kraemer L, Christiano AM: Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma. Clin Exp Dermatol; 2010 Oct;35(7):759-64
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma.
  • Keratin 9 (K9) is expressed only in the suprabasal layers of palmoplantar epidermis.
  • Mutations in the keratin 9 gene (KRT9) have been shown to cause epidermolytic palmoplantar keratoderma (EPPK; OMIM 144200), an autosomal dominant genodermatosis characterized clinically by diffuse hyperkeratosis limited to the palms and soles, and histologically by epidermolysis in suprabasal layers of the epidermis.
  • The results of our study further underscore the crucial role of K9 protein in the palmoplantar epidermis.
  • [MeSH-major] Keratin-9 / genetics. Keratoderma, Palmoplantar, Epidermolytic / genetics. Mutation

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  • [Copyright] © 2009 The Author(s). Journal compilation © 2009 British Association of Dermatologists.
  • [Cites] J Invest Dermatol. 2000 Apr;114(4):616-9 [10733662.001]
  • [Cites] Am J Clin Dermatol. 2003;4(5):347-64 [12688839.001]
  • [Cites] Curr Opin Cell Biol. 2002 Feb;14(1):110-22 [11792552.001]
  • [Cites] J Invest Dermatol. 2002 Oct;119(4):966-71 [12406346.001]
  • [Cites] Acta Derm Venereol. 2003;83(2):135-7 [12735645.001]
  • [Cites] Br J Dermatol. 2004 Jun;150(6):1096-103 [15214894.001]
  • [Cites] J Pathol. 2004 Nov;204(4):355-66 [15495218.001]
  • [Cites] Cell. 1990 Aug 24;62(4):681-96 [1696851.001]
  • [Cites] Hum Genet. 1992 Sep-Oct;90(1-2):113-6 [1385292.001]
  • [Cites] Differentiation. 1993 Dec;55(1):57-71 [7507869.001]
  • [Cites] Nat Genet. 1994 Feb;6(2):174-9 [7512862.001]
  • [Cites] J Invest Dermatol. 1998 Dec;111(6):1207-9 [9856842.001]
  • [Cites] Br J Dermatol. 1999 Mar;140(3):486-90 [10233272.001]
  • [Cites] Arch Dermatol Res. 2005 Feb;296(8):375-8 [15605275.001]
  • [Cites] Br J Dermatol. 2005 Apr;152(4):804-6 [15840121.001]
  • [Cites] J Invest Dermatol. 2006 Mar;126(3):607-13 [16439967.001]
  • [Cites] J Cell Biol. 2006 Jul 17;174(2):169-74 [16831889.001]
  • [Cites] Br J Dermatol. 2006 Sep;155(3):624-6 [16911293.001]
  • [Cites] J Invest Dermatol. 2001 Apr;116(4):606-9 [11286630.001]
  • (PMID = 19874353.001).
  • [ISSN] 1365-2230
  • [Journal-full-title] Clinical and experimental dermatology
  • [ISO-abbreviation] Clin. Exp. Dermatol.
  • [Language] eng
  • [Grant] United States / NIAMS NIH HHS / AR / R01 AR044924; United States / NIAMS NIH HHS / AR / R01AR44924
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] England
  • [Chemical-registry-number] 0 / KRT9 protein, human; 0 / Keratin-9
  • [Other-IDs] NLM/ NIHMS142982; NLM/ PMC2945290
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8. Cao X, Yin J, Wang H, Zhao J, Zhang J, Dai L, Zhang J, Jiang H, Lin Z, Yang Y: Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma Bothnia type. J Invest Dermatol; 2014 Jan;134(1):284-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma Bothnia type.
  • [MeSH-major] Aquaporin 5 / genetics. Asian Continental Ancestry Group / genetics. Keratoderma, Palmoplantar, Diffuse / genetics

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  • (PMID = 23867895.001).
  • [ISSN] 1523-1747
  • [Journal-full-title] The Journal of investigative dermatology
  • [ISO-abbreviation] J. Invest. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / AQP5 protein, human; 0 / Aquaporin 5; Diffuse palmoplantar keratoderma, Bothnian type
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9. Cooper IF, Siadaty MS: 'Diseases or Syndromes' associated with 'Diffuse Palmoplantar Keratoderma': Top Publications. BioMedLib Review; DiseaseOrSyndrome;DiffusePalmoplantarKeratoderma:706365592. ISSN: 2331-5717. 2014/3/26
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  • [Title] 'Diseases or Syndromes' associated with 'Diffuse Palmoplantar Keratoderma': Top Publications.
  • [Transliterated title]
  • Background: There are articles published each month which present 'Disease or Syndrome' for 'diffuse palmoplantar keratoderma'.
  • Finding such articles is important for researchers, clinicians, and patients.
  • However these articles are spread across thousands of journals, and there are many types of 'Disease or Syndrome'.
  • This makes searching and locating the relevant publications a challenge.
  • We have used BioMedLib's semantic search technology to address the issue, and gathered all the pertinent publications in this review article.
  • Methods: We categorized the publications we found into two groups.
  • We used the strength of textual-association to separate the groups.
  • In group one there are publications with the strongest evidence of association. We focused finding the most relevant publications pertinent to our goal, rather than combining them into a conclusion section. Such textual synthesis will be the focus of our next project.
  • Results: Group one includes 22 publications, and group two 355 publications.
  • Here are the top 10.
  • Sun X et al: [Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family].
  • Richardson ES et al: A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.
  • Karadag AS et al: A family of Unna-Thost disease with one of them showing findings of epidermolytic keratoderma.
  • Coonar AS et al: Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21.
  • Das A et al: Diffuse non-epidermolytic palmoplantar keratoderma.
  • Blaydon DC et al: Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
  • Urbańska-Ryś H et al: Multiple myeloma in a patient with systemic lupus erythematosus, myasthenia gravis and non-familial diffuse palmoplantar keratoderma.
  • Liu XP et al: Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree.
  • Lind L et al: The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13.
  • Do JE et al: Capecitabine-induced diffuse palmoplantar keratoderma: is it a sequential event of hand-foot syndrome?.

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  • [Copyright] Copyright 2014 Siadaty and Cooper; licensee BioMedLib LLC.
  • (UID = 706365592.001).
  • [ISSN] 2331-5717
  • [Journal-full-title] BioMedLib Review
  • [Language] eng
  • [Publication-type] Review
  • [Publication-country] UNITED STATES
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10. Wohltmann WE, MacAlpine DM, Hodson DS: Palmoplantar keratoderma as the initial sign in a peripheral T-cell lymphoma. Dermatol Online J; 2010;16(5):3
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  • [Title] Palmoplantar keratoderma as the initial sign in a peripheral T-cell lymphoma.
  • A 27-year-old male with an acquired severe, diffuse palmoplantar keratoderma as the initial sign of peripheral T-cell lymphoma is reported.
  • [MeSH-major] Keratoderma, Palmoplantar, Diffuse / complications. Lymphoma, T-Cell, Peripheral / complications. Paraneoplastic Syndromes / diagnosis

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  • (PMID = 20492820.001).
  • [ISSN] 1087-2108
  • [Journal-full-title] Dermatology online journal
  • [ISO-abbreviation] Dermatol. Online J.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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11. Bassetto F, Tiengo C, Sferrazza R, Belloni-Fortina A, Alaibac M: Vohwinkel syndrome: treatment of pseudo-ainhum. Int J Dermatol; 2010 Jan;49(1):79-82
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Vohwinkel syndrome: treatment of pseudo-ainhum.
  • BACKGROUND: Vohwinkel syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant palmoplantar keratosis which manifests in infants and becomes more evident in adulthood.
  • The disease mostly occurs in white women, where constricting fibrous bands appear on the digits and can lead to progressive strangulation and auto-amputation (pseudo-ainhum).
  • AIM: The treatment of this keratoderma is very difficult and tends to be symptomatic: topical keratolytics and systemic retinoids have been used to treat hyperkeratosis, but without consistent results.
  • RESULTS AND CONCLUSION: In this study, we present an additional case of Vohwinkel syndrome in which constrictive bands of the fifth digit in the left hand were treated with a cross finger flap, with a favorable outcome after 18 months of follow-up.
  • [MeSH-major] Ainhum / etiology. Ainhum / surgery. Keratoderma, Palmoplantar, Diffuse / complications. Keratoderma, Palmoplantar, Diffuse / surgery. Reconstructive Surgical Procedures


12. Dai L, Wu J, Guo H, Huang Y, Zhang K, Liu D, Fu L, Wu Y, Guan X, Bai Y, Liao Q: Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family. Eur J Pediatr; 2014 Jun;173(6):737-41
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  • [Title] Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family.
  • Pachyonychia congenita (PC), a rare autosomal dominant disorder characterized by hypertrophic nail dystrophy, is classified into two main clinical subtypes: PC-1 and PC-2.
  • The disease haplotype carried the mutation and cosegregated with the affection status.
  • CONCLUSION: The wider spectrum of KRT16 mutations suggests that changes in codons 125, 127, and 132 are most commonly responsible for PC-1 and that proline substitution mutations at codons 127 or 128 may produce more severe disease.
  • [MeSH-major] Asian Continental Ancestry Group / genetics. Keratin-16 / genetics. Keratoderma, Palmoplantar, Diffuse / genetics. Mutation, Missense. Pachyonychia Congenita / genetics. Papilloma / genetics

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  • (PMID = 24357266.001).
  • [ISSN] 1432-1076
  • [Journal-full-title] European journal of pediatrics
  • [ISO-abbreviation] Eur. J. Pediatr.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / KRT16 protein, human; 0 / Keratin-16; Hyperkeratosis of the palms and soles and esophageal papillomas
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13. El Amri I, Mamai O, Ghariani N, Denguezli M, Sriha B, Adala L, Saad A, Gribaa M, Nouira R: [Clinical and genetic characteristics of Buschke-Fischer-Brauer's disease in a Tunisian family]. Ann Dermatol Venereol; 2010 Apr;137(4):269-75
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  • [Title] [Clinical and genetic characteristics of Buschke-Fischer-Brauer's disease in a Tunisian family].
  • [Transliterated title] Etude clinique et génétique de la kératodermie palmoplantaire de Buschke-Fischer-Brauer dans une famille tunisienne.
  • BACKGROUND: Punctate palmoplantar keratoderma (PPPK), or Buschke-Fischer-Brauer's disease, is a rare form of genodermatosis with autosomal dominant transmission and with variable penetrance.
  • Two loci were found to be linked to this disease: one on 15q22 and the other on 8q24.
  • Clinically, lesions ranged from few keratotic papules on the palms to coalescence of lesions in plaques over palmar and/or plantar surfaces.
  • Further screening studies to identify mutated genes in the region of interest will help us to understand the molecular basis of this disease and hopefully to propose suitable treatment.
  • [MeSH-major] Chromosomes, Human, Pair 15 / genetics. Keratoderma, Palmoplantar, Diffuse / genetics

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  • [Copyright] 2010 Elsevier Masson SAS. All rights reserved.
  • (PMID = 20417359.001).
  • [ISSN] 0151-9638
  • [Journal-full-title] Annales de dermatologie et de vénéréologie
  • [ISO-abbreviation] Ann Dermatol Venereol
  • [Language] fre
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] France
  • [Chemical-registry-number] 9007-49-2 / DNA
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14. Varela AB, Blanco Rodríguez MM, Boullosa PE, Silva JG: Tylosis A with squamous cell carcinoma of the oesophagus in a Spanish family. Eur J Gastroenterol Hepatol; 2011 Mar;23(3):286-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Tylosis A with squamous cell carcinoma of the oesophagus in a Spanish family.
  • Palmoplantar tylosis is a focal nonepidermolytic palmoplantar hyperkeratosis, which is inherited as an autosomal dominant condition.
  • Two types have been described: an early onset type B tylosis, which occurs in the first year of life and is usually benign, and type A tylosis, which occurs between the ages of 5 and 15 years.
  • Type A tylosis has been associated with a high incidence of oesophageal carcinoma in three families in England, Germany and the USA.
  • This study describes an additional family from Spain with tylosis A, without any known relation to those described before.
  • [MeSH-major] Carcinoma, Squamous Cell / diagnosis. Esophageal Neoplasms / diagnosis. Keratoderma, Palmoplantar, Diffuse / diagnosis


15. Saarinen S, Vahteristo P, Lehtonen R, Aittomäki K, Launonen V, Kiviluoto T, Aaltonen LA: Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer. Fam Cancer; 2012 Sep;11(3):525-8
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  • [Title] Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer.
  • Tylosis with esophageal cancer (TOC) is a rare familial cancer syndrome inherited in an autosomal-dominant manner and characterized by esophageal cancer susceptibility and hyperkeratotic skin lesions.
  • Thus, we confirmed RHBDF2 mutations as the underlying cause of the TOC syndrome and our results suggest that the TOC associated mutations might be specific for this particular site in the RHBDF2 gene.
  • [MeSH-major] Carrier Proteins / genetics. Esophageal Neoplasms / genetics. Keratoderma, Palmoplantar, Diffuse / genetics. Mutation, Missense

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  • (PMID = 22638770.001).
  • [ISSN] 1573-7292
  • [Journal-full-title] Familial cancer
  • [ISO-abbreviation] Fam. Cancer
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Carrier Proteins; 0 / RHBDF2 protein, human
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16. Alavi A, Shahshahani MM, Klotzle B, Fan JB, Ronaghi M, Elahi E: Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4. J Dermatol; 2012 Apr;39(4):375-81
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4.
  • Ichthyosis is a heterogeneous disorder characterized by abnormal skin scaling over the whole body.
  • Seven genes have been identified to be causative of ARCI, and these account for disease in 60-80% of the patients.
  • Notably, all NIPAL4 mutation-bearing patients manifested diffuse yellowish keratoderma on the palms and soles.
  • We provide evidence suggesting presentation of this diffuse yellowish keratoderma may be indicative of mutations in NIPAL4, providing an easily assessable genotype-phenotype correlation.
  • [MeSH-major] Ichthyosiform Erythroderma, Congenital / genetics. Ichthyosiform Erythroderma, Congenital / pathology. Ichthyosis, Lamellar / genetics. Ichthyosis, Lamellar / pathology. Keratoderma, Palmoplantar, Diffuse / genetics. Keratoderma, Palmoplantar, Diffuse / pathology. Receptors, Cell Surface / genetics


17. Smart H, Kia R, Subramanian S, Khalid S, Campbell F, Ellis A: Defining the endoscopic appearances of tylosis using conventional and narrow-band imaging: a case series. Endoscopy; 2011 Aug;43(8):727-30
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  • [Title] Defining the endoscopic appearances of tylosis using conventional and narrow-band imaging: a case series.
  • Tylosis is an autosomal dominant skin disorder strongly associated with esophageal squamous cell cancer.
  • We present a single-operator experience of utilizing conventional endoscopy and narrow-band imaging with magnification to characterize esophageal appearances in tylosis.
  • Nineteen consecutive patients with tylosis attending for surveillance endoscopy were studied.
  • This report is the first to characterize the endoscopic appearances in tylosis.
  • [MeSH-major] Carcinoma, Squamous Cell / pathology. Esophageal Neoplasms / pathology. Esophagoscopy / methods. Image Enhancement / methods. Keratoderma, Palmoplantar, Diffuse / pathology. Papilloma / pathology. Precancerous Conditions / pathology

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  • [Copyright] © Georg Thieme Verlag KG Stuttgart · New York.
  • (PMID = 21623561.001).
  • [ISSN] 1438-8812
  • [Journal-full-title] Endoscopy
  • [ISO-abbreviation] Endoscopy
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] Hyperkeratosis of the palms and soles and esophageal papillomas
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18. Scott-Lang VE, McKay DA: Spiny keratoderma successfully treated with acitretin. Clin Exp Dermatol; 2013 Jan;38(1):91-2
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Spiny keratoderma successfully treated with acitretin.
  • [MeSH-major] Keratoderma, Palmoplantar, Diffuse / pathology

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  • [CommentOn] Clin Exp Dermatol. 2011 Dec;36(8):923-4 [22074372.001]
  • (PMID = 22731658.001).
  • [ISSN] 1365-2230
  • [Journal-full-title] Clinical and experimental dermatology
  • [ISO-abbreviation] Clin. Exp. Dermatol.
  • [Language] eng
  • [Publication-type] Comment; Letter
  • [Publication-country] England
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19. He Y, Zeng K, Zhang X, Chen Q, Wu J, Li H, Zhou Y, Glusman G, Roach J, Etheridge A, Qing S, Tian Q, Lee I, Tian X, Wang X, Wu Z, Hood L, Ding Y, Wang K: A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family. J Invest Dermatol; 2015 Mar;135(3):907-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family.
  • [MeSH-major] Asian Continental Ancestry Group / genetics. Keratoderma, Palmoplantar, Diffuse / genetics. Mutation / genetics. Papilloma / genetics. TRPV Cation Channels / genetics

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  • (PMID = 25285920.001).
  • [ISSN] 1523-1747
  • [Journal-full-title] The Journal of investigative dermatology
  • [ISO-abbreviation] J. Invest. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / TRPV Cation Channels; 0 / TRPV3 protein, human; Hyperkeratosis of the palms and soles and esophageal papillomas
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20. Feneran AN, Tey HL, Mills KC, Yosipovitch G: I have spikes on my hands. Clin Exp Dermatol; 2011 Dec;36(8):923-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [MeSH-major] Keratoderma, Palmoplantar, Diffuse / pathology

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  • [CommentIn] Clin Exp Dermatol. 2013 Jan;38(1):91-2 [22731658.001]
  • (PMID = 22074372.001).
  • [ISSN] 1365-2230
  • [Journal-full-title] Clinical and experimental dermatology
  • [ISO-abbreviation] Clin. Exp. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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21. Walsh SN, Bell RC: Spiny projections on the palms and soles. Spiny keratoderma of the palms and soles. Am J Dermatopathol; 2010 May;32(3):281, 313
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Spiny projections on the palms and soles. Spiny keratoderma of the palms and soles.
  • [MeSH-major] Keratoderma, Palmoplantar, Diffuse / pathology. Skin / pathology

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  • (PMID = 19755909.001).
  • [ISSN] 1533-0311
  • [Journal-full-title] The American Journal of dermatopathology
  • [ISO-abbreviation] Am J Dermatopathol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antimetabolites, Antineoplastic; 0 / Keratolytic Agents; U3P01618RT / Fluorouracil
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22. Cooper IF, Siadaty MS: 'Congenital Abnormalities' associated with 'Diffuse Palmoplantar Keratoderma': Top Publications. BioMedLib Review; CongenitalAbnormality;DiffusePalmoplantarKeratoderma:706363113. ISSN: 2331-5717. 2014/1/26
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  • [Title] 'Congenital Abnormalities' associated with 'Diffuse Palmoplantar Keratoderma': Top Publications.
  • [Transliterated title]
  • Background: There are articles published each month which present 'Congenital Abnormality' for 'diffuse palmoplantar keratoderma'.
  • Finding such articles is important for researchers, clinicians, and patients.
  • However these articles are spread across thousands of journals, and there are many types of 'Congenital Abnormality'.
  • This makes searching and locating the relevant publications a challenge.
  • We have used BioMedLib's semantic search technology to address the issue, and gathered all the pertinent publications in this review article.
  • Methods: We categorized the publications we found into two groups.
  • We used the strength of textual-association to separate the groups.
  • In group one there are publications with the strongest evidence of association. We focused finding the most relevant publications pertinent to our goal, rather than combining them into a conclusion section. Such textual synthesis will be the focus of our next project.
  • Results: Group one includes 22 publications, and group two 348 publications.
  • Here are the top 10.
  • Sun X et al: [Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family].
  • Karadag AS et al: A family of Unna-Thost disease with one of them showing findings of epidermolytic keratoderma.
  • Richardson ES et al: A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.
  • Coonar AS et al: Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21.
  • Das A et al: Diffuse non-epidermolytic palmoplantar keratoderma.
  • Blaydon DC et al: Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
  • Urbańska-Ryś H et al: Multiple myeloma in a patient with systemic lupus erythematosus, myasthenia gravis and non-familial diffuse palmoplantar keratoderma.
  • Maruyama R et al: A case of Unna-Thost disease accompanied by Epidermophyton floccosum infection.
  • Liu XP et al: Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree.
  • Khanna SK et al: Nonfamilial diffuse palmoplantar keratoderma associated with bronchial carcinoma.

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  • [Copyright] Copyright 2014 Siadaty and Cooper; licensee BioMedLib LLC.
  • (UID = 706363113.001).
  • [ISSN] 2331-5717
  • [Journal-full-title] BioMedLib Review
  • [Language] eng
  • [Publication-type] Review
  • [Publication-country] UNITED STATES
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23. Hinterberger L, Pföhler C, Vogt T, Müller CS: Diffuse epidermolytic palmoplantar keratoderma (Unna-Thost-). BMJ Case Rep; 2012;2012
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Diffuse epidermolytic palmoplantar keratoderma (Unna-Thost-).
  • [MeSH-major] Keratins, Hair-Specific / genetics. Keratins, Type II / genetics. Keratoderma, Palmoplantar. Keratoderma, Palmoplantar, Diffuse. Keratoderma, Palmoplantar, Epidermolytic. Mutation. Skin / pathology


24. Dereure O: [RHBDF2 mutations in familial palmoplantar keratoderma associated with tylosis oesophageal cancer]. Ann Dermatol Venereol; 2012 Aug-Sep;139(8-9):605-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [RHBDF2 mutations in familial palmoplantar keratoderma associated with tylosis oesophageal cancer].
  • [Transliterated title] Des mutations de RHBDF2 dans les kératodermies palmo-plantaires familiales associées au cancer de l'œsophage (tylose).
  • [MeSH-major] Esophageal Neoplasms / complications. Esophageal Neoplasms / genetics. Keratoderma, Palmoplantar, Diffuse / complications. Keratoderma, Palmoplantar, Diffuse / genetics. Membrane Proteins / genetics. Mutation


25. ASGE Standards of Practice Committee, Evans JA, Early DS, Fukami N, Ben-Menachem T, Chandrasekhara V, Chathadi KV, Decker GA, Fanelli RD, Fisher DA, Foley KQ, Hwang JH, Jain R, Jue TL, Khan KM, Lightdale J, Malpas PM, Maple JT, Pasha SF, Saltzman JR, Sharaf RN, Shergill A, Dominitz JA, Cash BD, Standards of Practice Committee of the American Society for Gastrointestinal Endoscopy: The role of endoscopy in Barrett's esophagus and other premalignant conditions of the esophagus. Gastrointest Endosc; 2012 Dec;76(6):1087-94
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [MeSH-minor] Ablation Techniques. Burns, Chemical / pathology. Early Detection of Cancer. Esophageal Achalasia / pathology. Esophagectomy / methods. Esophagus / injuries. Humans. Keratoderma, Palmoplantar, Diffuse / pathology


26. Cooper IF, Siadaty MS: 'Qualitative Concepts' associated with 'Keratoderma Diffuse': Top Publications. BioMedLib Review; QualitativeConcept;KeratodermaDiffuse:707176777. ISSN: 2331-5717. 2014/9/6
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  • [Title] 'Qualitative Concepts' associated with 'Keratoderma Diffuse': Top Publications.
  • [Transliterated title]
  • Background: There are articles published each month which present 'Qualitative Concept' for 'keratoderma diffuse'.
  • Finding such articles is important for researchers, clinicians, and patients.
  • However these articles are spread across thousands of journals, and there are many types of 'Qualitative Concept'.
  • This makes searching and locating the relevant publications a challenge.
  • We have used BioMedLib's semantic search technology to address the issue, and gathered all the pertinent publications in this review article.
  • Methods: We categorized the publications we found into two groups.
  • We used the strength of textual-association to separate the groups.
  • In group one there are publications with the strongest evidence of association. We focused finding the most relevant publications pertinent to our goal, rather than combining them into a conclusion section. Such textual synthesis will be the focus of our next project.
  • Results: Group one includes 27 publications, and group two 262 publications.
  • Here are the top 10.
  • Cooper IF et al: 'Diseases or Syndromes' associated with 'Keratoderma Diffuse': Top Publications.
  • Ghosh S et al: Tuberculosis verrucosa cutis presenting as diffuse plantar keratoderma: an unusual sight.
  • Coonar AS et al: Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21.
  • Sun X et al: [Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family].
  • Engin H et al: Non-small-cell lung cancer with nonfamilial diffuse palmoplantar keratoderma.
  • Khanna SK et al: Nonfamilial diffuse palmoplantar keratoderma associated with bronchial carcinoma.
  • Lind L et al: The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13.
  • Smith CH et al: Diffuse plane xanthomatosis and acquired palmoplantar keratoderma in association with myeloma.
  • Das A et al: Diffuse non-epidermolytic palmoplantar keratoderma.
  • Blaydon DC et al: Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.

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  • [Copyright] Copyright 2014 Siadaty and Cooper; licensee BioMedLib LLC.
  • (UID = 707176777.001).
  • [ISSN] 2331-5717
  • [Journal-full-title] BioMedLib Review
  • [Language] eng
  • [Publication-type] Review
  • [Publication-country] UNITED STATES
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27. Ke HP, Jiang HL, Lv YS, Huang YZ, Liu RR, Chen XL, Du ZF, Luo YQ, Xu CM, Fan QH, Zhang XN: KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma. Gene; 2014 Aug 1;546(1):124-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma.
  • Epidermolytic palmoplantar keratoderma (EPPK) is the most frequent form of such keratodermas.
  • It is inherited in an autosomal dominant pattern and is clinically characterized by diffuse yellowish thickening of the skin on the palms and soles with erythematous borders during the first weeks or months after birth.
  • [MeSH-major] Fetal Diseases / genetics. Keratin-9 / genetics. Keratoderma, Palmoplantar, Epidermolytic / diagnosis. Keratoderma, Palmoplantar, Epidermolytic / genetics. Mutation


28. Du ZF, Wei W, Wang YF, Chen XL, Chen CY, Liu WT, Lu JJ, Mao LG, Xu CM, Fang H, Zhang XN: A novel mutation within the 2B rod domain of keratin 9 in a Chinese pedigree with epidermolytic palmoplantar keratoderma combined with knuckle pads and camptodactyly. Eur J Dermatol; 2011 Sep-Oct;21(5):675-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A novel mutation within the 2B rod domain of keratin 9 in a Chinese pedigree with epidermolytic palmoplantar keratoderma combined with knuckle pads and camptodactyly.
  • To the best of our knowledge, all reported cases of epidermolytic palmoplantar keratoderma (EPPK) with knuckle pads have been without accompanying camptodactyly.
  • All the EPPK-affected individuals in this southern Chinese pedigree suffered severe diffuse palmar and plantar hyperkeratosis including hyperhidrosis and cuticle splitting: 3 females presented EPPK only, 8 adult males had notably severe knuckle pads and camptodactyly as well as EPPK, and one 6-year-old boy manifested EPPK with knuckle pads.
  • [MeSH-major] Abnormalities, Multiple / genetics. Fingers / abnormalities. Hand Deformities, Congenital / genetics. Keratin-9 / genetics. Keratoderma, Palmoplantar, Epidermolytic / genetics. Mutation, Missense

  • Genetic Alliance. consumer health - Palmoplantar Keratoderma.
  • Genetic Alliance. consumer health - Palmoplantar keratoderma, epidermolytic.
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  • [CommentIn] Eur J Dermatol. 2011 Sep-Oct;21(5):659 [21700536.001]
  • (PMID = 21715251.001).
  • [ISSN] 1167-1122
  • [Journal-full-title] European journal of dermatology : EJD
  • [ISO-abbreviation] Eur J Dermatol
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] France
  • [Chemical-registry-number] 0 / Keratin-9
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29. Cooper IF, Siadaty MS: 'Diseases or Syndromes' associated with 'Keratoderma Diffuse': Top Publications. BioMedLib Review; DiseaseOrSyndrome;KeratodermaDiffuse:706365584. ISSN: 2331-5717. 2014/10/26
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  • [Title] 'Diseases or Syndromes' associated with 'Keratoderma Diffuse': Top Publications.
  • [Transliterated title]
  • Background: There are articles published each month which present 'Disease or Syndrome' for 'keratoderma diffuse'.
  • Finding such articles is important for researchers, clinicians, and patients.
  • However these articles are spread across thousands of journals, and there are many types of 'Disease or Syndrome'.
  • This makes searching and locating the relevant publications a challenge.
  • We have used BioMedLib's semantic search technology to address the issue, and gathered all the pertinent publications in this review article.
  • Methods: We categorized the publications we found into two groups.
  • We used the strength of textual-association to separate the groups.
  • In group one there are publications with the strongest evidence of association. We focused finding the most relevant publications pertinent to our goal, rather than combining them into a conclusion section. Such textual synthesis will be the focus of our next project.
  • Results: Group one includes 22 publications, and group two 238 publications.
  • Here are the top 10.
  • Coonar AS et al: Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21.
  • Richardson ES et al: A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.
  • Ghosh S et al: Tuberculosis verrucosa cutis presenting as diffuse plantar keratoderma: an unusual sight.
  • Das A et al: Diffuse non-epidermolytic palmoplantar keratoderma.
  • Sun X et al: [Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family].
  • Blaydon DC et al: Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
  • Lind L et al: The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13.
  • Smith CH et al: Diffuse plane xanthomatosis and acquired palmoplantar keratoderma in association with myeloma.
  • Madan V et al: Tyrosinaemia type II with diffuse plantar keratoderma and self-mutilation.
  • Urbańska-Ryś H et al: Multiple myeloma in a patient with systemic lupus erythematosus, myasthenia gravis and non-familial diffuse palmoplantar keratoderma.

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  • [Copyright] Copyright 2014 Siadaty and Cooper; licensee BioMedLib LLC.
  • (UID = 706365584.001).
  • [ISSN] 2331-5717
  • [Journal-full-title] BioMedLib Review
  • [Language] eng
  • [Publication-type] Review
  • [Publication-country] UNITED STATES
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30. Cooper IF, Siadaty MS: 'Congenital Abnormalities' associated with 'Keratoderma Diffuse': Top Publications. BioMedLib Review; CongenitalAbnormality;KeratodermaDiffuse:707091485. ISSN: 2331-5717. 2014/12/5
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  • [Title] 'Congenital Abnormalities' associated with 'Keratoderma Diffuse': Top Publications.
  • [Transliterated title]
  • Background: There are articles published each month which present 'Congenital Abnormality' for 'keratoderma diffuse'.
  • Finding such articles is important for researchers, clinicians, and patients.
  • However these articles are spread across thousands of journals, and there are many types of 'Congenital Abnormality'.
  • This makes searching and locating the relevant publications a challenge.
  • We have used BioMedLib's semantic search technology to address the issue, and gathered all the pertinent publications in this review article.
  • Methods: We categorized the publications we found into two groups.
  • We used the strength of textual-association to separate the groups.
  • In group one there are publications with the strongest evidence of association. We focused finding the most relevant publications pertinent to our goal, rather than combining them into a conclusion section. Such textual synthesis will be the focus of our next project.
  • Results: Group one includes 24 publications, and group two 231 publications.
  • Here are the top 10.
  • Coonar AS et al: Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21.
  • Ghosh S et al: Tuberculosis verrucosa cutis presenting as diffuse plantar keratoderma: an unusual sight.
  • Das A et al: Diffuse non-epidermolytic palmoplantar keratoderma.
  • Blaydon DC et al: Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
  • Sun X et al: [Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family].
  • Richardson ES et al: A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.
  • Koumantaki E et al: What is your diagnosis? Diffuse nonepidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy (Naxos-Carvajal syndrome).
  • Khanna SK et al: Nonfamilial diffuse palmoplantar keratoderma associated with bronchial carcinoma.
  • Lind L et al: The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13.
  • Smith CH et al: Diffuse plane xanthomatosis and acquired palmoplantar keratoderma in association with myeloma.

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  • [Copyright] Copyright 2014 Siadaty and Cooper; licensee BioMedLib LLC.
  • (UID = 707091485.001).
  • [ISSN] 2331-5717
  • [Journal-full-title] BioMedLib Review
  • [Language] eng
  • [Publication-type] Review
  • [Publication-country] UNITED STATES
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31. Banerjee S, Ren Y, Wei T, Zhou Z, Yu P, Guan F, Wei X, Ye S, Yan S, Zheng M, Raff ML, Qi M: Next-generation sequencing detection and characterization of a heterozygous novel splice junction mutation in the 2B domain of KRT1 in a family with diffuse palmoplantar keratoderma. Exp Dermatol; 2015 Feb;24(2):152-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Next-generation sequencing detection and characterization of a heterozygous novel splice junction mutation in the 2B domain of KRT1 in a family with diffuse palmoplantar keratoderma.
  • Diffuse palmoplantar keratoderma (DPPK) is an autosomal-dominant genodermatosis characterized by restricted, uniform hyperkeratosis on the palm and sole epidermis.
  • This study also demonstrates the value of next-generation sequencing in the identification of novel disease-causing mutations.

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  • [Copyright] © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
  • (PMID = 25429721.001).
  • [ISSN] 1600-0625
  • [Journal-full-title] Experimental dermatology
  • [ISO-abbreviation] Exp. Dermatol.
  • [Language] eng
  • [Publication-type] Letter
  • [Publication-country] Denmark
  • [Keywords] NOTNLM ; KRT1 / alternative transcripts / diffuse palmoplantar keratoderma / next-generation sequencing / novel splice donor site mutation
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32. Koudoukpo C, Bourrat E, Rausky J, Yédomon H, Bagot M, Blanchet-Bardon C, Petit A: [Ainhum and "African acral keratoderma": three cases]. Ann Dermatol Venereol; 2015 Mar;142(3):170-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Ainhum and "African acral keratoderma": three cases].
  • [Transliterated title] Aïnhum et « kératodermies acrales africaines » : trois cas.
  • BACKGROUND: Ainhum, or spontaneous dactylitis, involves the formation of a gradual constriction in the digital-plantar fold of the fifth toe that leads, after several years, to autoamputation of the digit.
  • This condition is classically distinguished from "true" ainhum, of unknown aetiology and affecting only subjects of African origin, from "pseudo-ainhum", resulting from different causes such as inflammatory constriction or constriction by a foreign body, and finally from ainhumoid palmoplantar keratoderma, which is of genetic origin and occurs for instance in Vohwinkel syndrome.
  • In addition to ainhum, the first patient was also presenting diffuse palmoplantar keratoderma, together with an aspect of acrokeratoelastoidosis on the edges of her hands and feet, and knuckle pads, while the second was presenting diffuse palmoplantar keratoderma and an aspect of marginal acrokeratoelastoidosis, and the third was presenting small knuckle pads.
  • DISCUSSION: A recent study has confirmed the high incidence of several forms of palmoplantar keratoderma of African origin, as well as frequent association of these different varieties with one another.
  • These consist of diffuse keratoderma having a relatively non-specific aspect, keratoderma punctata of the palmar creases, marginal keratoderma known also as focal acral hyperkeratosis, and acrokeratoelastoidosis, despite the absence of histological evidence, and finally, inverted keratoderma, i.e. affecting the dorsal aspects of the extremities, such as knuckle pads.
  • In the three cases presented here, ainhum was associated with these different forms of acral keratoderma seen chiefly in subjects of African origin.
  • CONCLUSION: So-called "true" ainhum may be included in a broader group of African acral keratoderma, further reinforcing the unity of this group.

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  • [Copyright] Copyright © 2014 Elsevier Masson SAS. All rights reserved.
  • (PMID = 25624138.001).
  • [ISSN] 0151-9638
  • [Journal-full-title] Annales de dermatologie et de vénéréologie
  • [ISO-abbreviation] Ann Dermatol Venereol
  • [Language] fre
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] France
  • [Keywords] NOTNLM ; Acrokeratoelastoidosis / Acrokérato-élastoïdose / Africa / Afrique / Ainhum / Aïnhum / Coussinets des phalanges / Knuckle pads / Kératodermie palmo-plantaire / Palmoplantar keratoderma / Pseudo-ainhum / Pseudo-aïnhum
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33. Stieler K, Blume-Peytavi U, Vogel A, Atugoda S: Hyperkeratoses as paraneoplastic syndrome. J Dtsch Dermatol Ges; 2012 Aug;10(8):593-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Hyperkeratoses as paraneoplastic syndrome.
  • [MeSH-major] Acanthosis Nigricans / pathology. Foot Dermatoses / pathology. Hyperkeratosis, Epidermolytic / pathology. Keratoderma, Palmoplantar, Diffuse / pathology. Paraneoplastic Syndromes / pathology

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  • (PMID = 22672236.001).
  • [ISSN] 1610-0387
  • [Journal-full-title] Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
  • [ISO-abbreviation] J Dtsch Dermatol Ges
  • [Language] eng; ger
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
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34. Cooper IF, Siadaty MS: 'Qualitative Concepts' associated with 'Epidermolytic Palmoplantar Keratodermas': Top Publications. BioMedLib Review; QualitativeConcept;EpidermolyticPalmoplantarKeratodermas:706058182. ISSN: 2331-5717. 2014/7/22
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  • [Title] 'Qualitative Concepts' associated with 'Epidermolytic Palmoplantar Keratodermas': Top Publications.
  • [Transliterated title]
  • Background: There are articles published each month which present 'Qualitative Concept' for 'epidermolytic palmoplantar keratodermas'.
  • Finding such articles is important for researchers, clinicians, and patients.
  • However these articles are spread across thousands of journals, and there are many types of 'Qualitative Concept'.
  • This makes searching and locating the relevant publications a challenge.
  • We have used BioMedLib's semantic search technology to address the issue, and gathered all the pertinent publications in this review article.
  • Methods: We categorized the publications we found into two groups.
  • We used the strength of textual-association to separate the groups.
  • In group one there are publications with the strongest evidence of association. We focused finding the most relevant publications pertinent to our goal, rather than combining them into a conclusion section. Such textual synthesis will be the focus of our next project.
  • Results: Group one includes 22 publications, and group two 175 publications.
  • Here are the top 10.
  • Cooper IF et al: 'Steroids' associated with 'Epidermolytic Palmoplantar Keratodermas': Top Publications.
  • Kelsell DP et al: Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC).
  • Das A et al: Diffuse non-epidermolytic palmoplantar keratoderma.
  • Hatsell SJ et al: Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds.
  • Kelsell DP et al: Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity.
  • Hennies HC et al: Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma.
  • Bergman R et al: A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma.
  • Covello SP et al: Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland.
  • Zhang XN et al: [Present status of the molecular genetics in epidermolytic palmoplantar keratoderma].
  • Hinterberger L et al: Diffuse epidermolytic palmoplantar keratoderma (Unna-Thost-).

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  • [Copyright] Copyright 2014 Siadaty and Cooper; licensee BioMedLib LLC.
  • (UID = 706058182.001).
  • [ISSN] 2331-5717
  • [Journal-full-title] BioMedLib Review
  • [Language] eng
  • [Publication-type] Review
  • [Publication-country] UNITED STATES
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35. Cooper IF, Siadaty MS: 'Qualitative Concepts' associated with 'Epidermolytic Palmoplantar Keratodermas': Top Publications. BioMedLib Review; QualitativeConcept;EpidermolyticPalmoplantarKeratodermas:706058181. ISSN: 2331-5717. 2014/3/22
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  • [Title] 'Qualitative Concepts' associated with 'Epidermolytic Palmoplantar Keratodermas': Top Publications.
  • [Transliterated title]
  • Background: There are articles published each month which present 'Qualitative Concept' for 'epidermolytic palmoplantar keratodermas'.
  • Finding such articles is important for researchers, clinicians, and patients.
  • However these articles are spread across thousands of journals, and there are many types of 'Qualitative Concept'.
  • This makes searching and locating the relevant publications a challenge.
  • We have used BioMedLib's semantic search technology to address the issue, and gathered all the pertinent publications in this review article.
  • Methods: We categorized the publications we found into two groups.
  • We used the strength of textual-association to separate the groups.
  • In group one there are publications with the strongest evidence of association. We focused finding the most relevant publications pertinent to our goal, rather than combining them into a conclusion section. Such textual synthesis will be the focus of our next project.
  • Results: Group one includes 22 publications, and group two 175 publications.
  • Here are the top 10.
  • Cooper IF et al: 'Steroids' associated with 'Epidermolytic Palmoplantar Keratodermas': Top Publications.
  • Kelsell DP et al: Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC).
  • Das A et al: Diffuse non-epidermolytic palmoplantar keratoderma.
  • Hatsell SJ et al: Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds.
  • Kelsell DP et al: Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity.
  • Hennies HC et al: Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma.
  • Bergman R et al: A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma.
  • Covello SP et al: Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland.
  • Zhang XN et al: [Present status of the molecular genetics in epidermolytic palmoplantar keratoderma].
  • Hinterberger L et al: Diffuse epidermolytic palmoplantar keratoderma (Unna-Thost-).

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  • [Copyright] Copyright 2014 Siadaty and Cooper; licensee BioMedLib LLC.
  • (UID = 706058181.001).
  • [ISSN] 2331-5717
  • [Journal-full-title] BioMedLib Review
  • [Language] eng
  • [Publication-type] Review
  • [Publication-country] UNITED STATES
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36. Kumar KV, Shaikh A, Sharma R, Bisht YS: Palmoplantar keratoderma with growth hormone deficiency. J Pediatr Endocrinol Metab; 2012;25(3-4):327-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Palmoplantar keratoderma with growth hormone deficiency.
  • Palmoplantar keratoderma (PPK) is a diverse group of disorders, characterized by thickening of the palms and soles, which are subdivided into focal or diffuse; it can be acquired or hereditary.
  • In this case report, we present monozygotic twin sisters with palmoplantar keratoderma and growth hormone deficiency.
  • [MeSH-major] Dwarfism / etiology. Human Growth Hormone / deficiency. Keratoderma, Palmoplantar / etiology


37. Dereure O: [The perennial problem of keratinisation disorders]. Ann Dermatol Venereol; 2013 Mar;140(3):240-1
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Transliterated title] Troubles de la kératinisation encore et toujours.
  • [MeSH-major] Skin Diseases, Genetic / genetics
  • [MeSH-minor] Cations / metabolism. Connexins / deficiency. Connexins / genetics. Deafness / genetics. Deafness / pathology. Genes, Recessive. Humans. Ichthyosis / genetics. Ichthyosis / pathology. Ion Transport. Keratinocytes / metabolism. Keratinocytes / pathology. Keratins / metabolism. Keratitis / genetics. Keratitis / pathology. Keratoderma, Palmoplantar / genetics. Keratoderma, Palmoplantar / pathology. Keratoderma, Palmoplantar, Diffuse / genetics. Keratoderma, Palmoplantar, Diffuse / pathology. Mosaicism. Nevus / genetics. Porokeratosis / genetics. Sweat Gland Neoplasms / genetics. TRPV Cation Channels / deficiency. TRPV Cation Channels / genetics

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  • (PMID = 23466163.001).
  • [ISSN] 0151-9638
  • [Journal-full-title] Annales de dermatologie et de vénéréologie
  • [ISO-abbreviation] Ann Dermatol Venereol
  • [Language] fre
  • [Publication-type] Journal Article; Review
  • [Publication-country] France
  • [Chemical-registry-number] 0 / Cations; 0 / Connexins; 0 / TRPV Cation Channels; 0 / TRPV3 protein, human; 127120-53-0 / connexin 26; 68238-35-7 / Keratins; Keratitis, Ichthyosis, and Deafness (KID) Syndrome
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38. Akasaka E, Nakano H, Nakano A, Toyomaki Y, Takiyoshi N, Rokunohe D, Nishikawa Y, Korekawa A, Matsuzaki Y, Mitsuhashi Y, Sawamura D: Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation. Br J Dermatol; 2011 Dec;165(6):1290-2
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation.
  • The palmoplantar keratodermas (PPKs) are a large group of genodermatoses comprising nearly 60 genetically distinct diseases.
  • Focal PPK is one of the hallmarks of pachyonychia congenita, a rare autosomal dominant disorder resulting from mutations in the keratin genes KRT6A, KRT6B, KRT16 or KRT17.
  • We report here a novel KRT6C mutation identified in a Japanese family with PPK with phenotypic heterogeneity, presenting with not only focal but also diffuse hyperkeratosis.
  • The proband had diffuse hyperkeratosis on the soles and small focal hyperkeratoses on the palms, while the two other affected individuals showed focal hyperkeratoses on the soles.
  • These findings strongly suggest that screening of patients with nonepidermolytic diffuse PPK, in whom the pathogenic mutations are yet to be determined, might identify mutations in KRT6C.
  • [MeSH-major] Foot Dermatoses / genetics. Hand Dermatoses / genetics. Keratin-6 / genetics. Keratoderma, Palmoplantar / genetics. Mutation / genetics


39. Guo Y, Shi M, Tan ZP, Shi XL: Possible anticipation in familial epidermolytic palmoplantar keratoderma with the p.R163W mutation of Keratin 9. Genet Mol Res; 2014;13(4):8089-93
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Possible anticipation in familial epidermolytic palmoplantar keratoderma with the p.R163W mutation of Keratin 9.
  • Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant disease characterized by diffuse hyperkeratosis of the epidermis of the palm and sole with an erythematous margin.

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  • (PMID = 25299193.001).
  • [ISSN] 1676-5680
  • [Journal-full-title] Genetics and molecular research : GMR
  • [ISO-abbreviation] Genet. Mol. Res.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Brazil
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40. Seebode C, Schiller S, Emmert S, Giehl K: [Palmoplantar dermatoses: when should genes be considered?]. Hautarzt; 2014 Jun;65(6):499-512
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Palmoplantar dermatoses: when should genes be considered?].
  • BACKGROUND: Palmoplantar dermatoses are common.
  • Dermatoses on the hands and feet often go along with palmoplantar hyperkeratosis.
  • Such palmoplantar keratoses (PPK) can be classified into acquired (non-hereditary) and hereditary (monogenetic) PPK.
  • As these diseases constitute a heterogeneous group of quite uncommon single entities, the treating physician must know when to entertain the diagnosis of a hereditary PPK and which causative genes should be considered.
  • METHODS: We summarize the common causes of acquired and hereditary PPK based on a review of the latest literature.
  • Genetically caused PPK may occur isolated, within syndromes or as a paraneoplastic marker.
  • The clinical/histological classification discerns diffuse, focal, or punctuate forms of PPK with and without epidermolysis.
  • CONCLUSIONS: Knowledge about the large, but heterogeneous group of hereditary PPK is important to adequately counsel and treat patients and their families.
  • [MeSH-major] Cytogenetic Analysis / methods. Genetic Testing / methods. Keratoderma, Palmoplantar / diagnosis. Keratoderma, Palmoplantar / genetics. Molecular Diagnostic Techniques / methods
  • [MeSH-minor] Genetic Markers / genetics. Genetic Predisposition to Disease / genetics. Humans

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  • (PMID = 24898504.001).
  • [ISSN] 1432-1173
  • [Journal-full-title] Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete
  • [ISO-abbreviation] Hautarzt
  • [Language] ger
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Genetic Markers
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41. Du ZF, Xu CM, Zhao Y, Liu WT, Chen XL, Chen CY, Fang H, Ke HP, Zhang XN: Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma. Eur J Dermatol; 2012 Jul-Aug;22(4):476-80
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma.
  • BACKGROUND: Mutations in the KRT6A or KRT16 gene cause pachyonychia congenita type 1 (PC-1), while mutations in KRT16 or KRT6C underlie focal palmoplantar keratoderma (FPPK).
  • PC rarely presents the symptoms of diffuse plantar keratoderma.
  • OBJECTIVES: To investigate the genotype-phenotype correlations between clinical features and gene mutational sites in two unrelated southern Chinese PC pedigrees (one family presented with specific fissured tongue, the other with diffuse plantar keratoderma).
  • To confirm the effect of the IVS8-2A>C mutation in KRT6A at the mRNA level, total RNA from the plantar lesion of a patient was extracted and reverse-transcribed to cDNA for sequence analysis.
  • RESULTS: Two novel de novo mutations, a splice acceptor site variant IVS8-2A>C (p.S487FfsX72) in KRT6A and a heterozygous substitution c.AA373_374GG (p.N125G) within exon 1 of KRT16, were found separately in the two PC families.
  • [MeSH-major] Keratin-16 / genetics. Keratin-6 / genetics. Keratoderma, Palmoplantar / genetics. Mutation. Pachyonychia Congenita / genetics. Tongue, Fissured / genetics


42. O'Toole A, O'Malley M: Unilateral keratoderma in a mother and her son. J Cutan Med Surg; 2012 Jul-Aug;16(4):288-90
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Unilateral keratoderma in a mother and her son.
  • BACKGROUND: Keratoderma is a group of conditions characterized by hyperkeratosis affecting the skin on the soles of the feet and palms of the hands bilaterally.
  • The classification of keratodermas depends on whether it is inherited or acquired and on its clinical features, including diffuse or focal involvement of the skin and the morphology of lesions present.
  • CASE REPORT: We describe the rare case of a 54-year-old female who presented with a nearly 40-year history of punctate keratoderma on her right palm and sole.
  • History taking revealed that her biologic son also has unilateral left-sided keratoderma.
  • The clinical presentation of unilateral keratoderma has been reported only four times in the literature.
  • [MeSH-major] Keratoderma, Palmoplantar / diagnosis

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  • (PMID = 22784524.001).
  • [ISSN] 1203-4754
  • [Journal-full-title] Journal of cutaneous medicine and surgery
  • [ISO-abbreviation] J Cutan Med Surg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Canada
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43. Mizuno O, Nomura T, Suzuki S, Takeda M, Ohguchi Y, Fujita Y, Nishie W, Sugiura K, Akiyama M, Shimizu H: Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis. Br J Dermatol; 2014 Oct;171(4):847-53
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis.
  • BACKGROUND: Nagashima-type palmoplantar keratosis (NPPK) is a distinct autosomal recessive genodermatosis characterized by diffuse transgressive palmoplantar keratoderma (PPK).

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  • [Copyright] © 2014 British Association of Dermatologists.
  • (PMID = 24773080.001).
  • [ISSN] 1365-2133
  • [Journal-full-title] The British journal of dermatology
  • [ISO-abbreviation] Br. J. Dermatol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
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44. Yeh JM, Yang MH, Chao SC: Collodion baby and loricrin keratoderma: a case report and mutation analysis. Clin Exp Dermatol; 2013 Mar;38(2):147-50
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Collodion baby and loricrin keratoderma: a case report and mutation analysis.
  • Hereditary palmoplantar keratodermas (PPK) comprise a clinically and genetically heterogeneous group of genodermatoses, which share the characteristic of impaired epidermal differentiation, resulting in prominent palmoplantar hyperkeratosis.
  • Molecular genetic analyses have helped characterize the underlying genetic defects in an increasing number of hereditary PPKs over the past two decades, and thus a pathophysiological classificaiton seems more reasonable.
  • In this report, we describe a 22-year-old man who had been born a collodion baby, and later developed diffuse PPK with pseudoainhum and generalized ichthyosis.
  • This family had the typical presentation of loricrin keratoderma.
  • It also indicates that collodion baby may be the first presentation in patients with loricrin keratoderma.
  • [MeSH-major] Ichthyosiform Erythroderma, Congenital / genetics. Keratoderma, Palmoplantar / genetics. Membrane Proteins / genetics. Mutation

  • Genetics Home Reference. consumer health - LOR Gene.
  • The Weizmann Institute of Science GeneCards and MalaCards databases. gene/protein/disease-specific - MalaCards for keratoderma .
  • NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .
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  • [Copyright] © The Author(s). CED © 2012 British Association of Dermatologists.
  • (PMID = 22831754.001).
  • [ISSN] 1365-2230
  • [Journal-full-title] Clinical and experimental dermatology
  • [ISO-abbreviation] Clin. Exp. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Membrane Proteins; 0 / loricrin
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45. Cooper IF, Siadaty MS: 'Diseases or Syndromes' associated with 'Epidermolytic Palmoplantar Keratodermas': Top Publications. BioMedLib Review; DiseaseOrSyndrome;EpidermolyticPalmoplantarKeratodermas:706569447. ISSN: 2331-5717. 2014/1/28
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  • [Title] 'Diseases or Syndromes' associated with 'Epidermolytic Palmoplantar Keratodermas': Top Publications.
  • [Transliterated title]
  • Background: There are articles published each month which present 'Disease or Syndrome' for 'epidermolytic palmoplantar keratodermas'.
  • Finding such articles is important for researchers, clinicians, and patients.
  • However these articles are spread across thousands of journals, and there are many types of 'Disease or Syndrome'.
  • This makes searching and locating the relevant publications a challenge.
  • We have used BioMedLib's semantic search technology to address the issue, and gathered all the pertinent publications in this review article.
  • Methods: We categorized the publications we found into two groups.
  • We used the strength of textual-association to separate the groups.
  • In group one there are publications with the strongest evidence of association. We focused finding the most relevant publications pertinent to our goal, rather than combining them into a conclusion section. Such textual synthesis will be the focus of our next project.
  • Results: Group one includes 52 publications, and group two 142 publications.
  • Here are the top 10.
  • Cooper IF et al: 'Steroids' associated with 'Epidermolytic Palmoplantar Keratodermas': Top Publications.
  • High WA et al: Localized epidermolytic hyperkeratosis of the female genitalia: a case report and review of an underappreciated disorder of women.
  • Terron-Kwiatkowski A et al: Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin.
  • Hatsell SJ et al: Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds.
  • Das A et al: Diffuse non-epidermolytic palmoplantar keratoderma.
  • Liu WT et al: The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees.
  • Swann MH et al: Localized epidermolytic hyperkeratosis of the female external genitalia.
  • Oiso N et al: Focal palmoplantar keratoderma with epidermolytic degeneration.
  • Bergman R et al: A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma.
  • Morais P et al: Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation.

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  • [Copyright] Copyright 2014 Siadaty and Cooper; licensee BioMedLib LLC.
  • (UID = 706569447.001).
  • [ISSN] 2331-5717
  • [Journal-full-title] BioMedLib Review
  • [Language] eng
  • [Publication-type] Review
  • [Publication-country] UNITED STATES
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46. Cooper IF, Siadaty MS: 'Congenital Abnormalities' associated with 'Epidermolytic Palmoplantar Keratodermas': Top Publications. BioMedLib Review; CongenitalAbnormality;EpidermolyticPalmoplantarKeratodermas:706568957. ISSN: 2331-5717. 2014/1/28
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  • [Title] 'Congenital Abnormalities' associated with 'Epidermolytic Palmoplantar Keratodermas': Top Publications.
  • [Transliterated title]
  • Background: There are articles published each month which present 'Congenital Abnormality' for 'epidermolytic palmoplantar keratodermas'.
  • Finding such articles is important for researchers, clinicians, and patients.
  • However these articles are spread across thousands of journals, and there are many types of 'Congenital Abnormality'.
  • This makes searching and locating the relevant publications a challenge.
  • We have used BioMedLib's semantic search technology to address the issue, and gathered all the pertinent publications in this review article.
  • Methods: We categorized the publications we found into two groups.
  • We used the strength of textual-association to separate the groups.
  • In group one there are publications with the strongest evidence of association. We focused finding the most relevant publications pertinent to our goal, rather than combining them into a conclusion section. Such textual synthesis will be the focus of our next project.
  • Results: Group one includes 53 publications, and group two 138 publications.
  • Here are the top 10.
  • Cooper IF et al: 'Steroids' associated with 'Epidermolytic Palmoplantar Keratodermas': Top Publications.
  • High WA et al: Localized epidermolytic hyperkeratosis of the female genitalia: a case report and review of an underappreciated disorder of women.
  • Das A et al: Diffuse non-epidermolytic palmoplantar keratoderma.
  • Shimomura Y et al: Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma.
  • Terron-Kwiatkowski A et al: Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin.
  • Hatsell SJ et al: Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds.
  • Swann MH et al: Localized epidermolytic hyperkeratosis of the female external genitalia.
  • Oiso N et al: Focal palmoplantar keratoderma with epidermolytic degeneration.
  • Sehgal VN et al: Hereditary palmoplantar (epidermolytic) keratoderma: illustration through a familial report.
  • Bergman R et al: A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma.

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  • [Copyright] Copyright 2014 Siadaty and Cooper; licensee BioMedLib LLC.
  • (UID = 706568957.001).
  • [ISSN] 2331-5717
  • [Journal-full-title] BioMedLib Review
  • [Language] eng
  • [Publication-type] Review
  • [Publication-country] UNITED STATES
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47. Kubo A: Nagashima-type palmoplantar keratosis: a common Asian type caused by SERPINB7 protease inhibitor deficiency. J Invest Dermatol; 2014 Aug;134(8):2076-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Nagashima-type palmoplantar keratosis: a common Asian type caused by SERPINB7 protease inhibitor deficiency.
  • Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive diffuse non-epidermolytic palmoplantar keratosis caused by mutations in SERPINB7, a member of the serine protease inhibitor superfamily.
  • Genetic studies suggest that NPPK is the most common palmoplantar keratosis in Japan, and probably Asia, but one that is extremely rare in Western countries.
  • In this issue, Yin et al. report a founder effect of a SERPINB7 mutation in Chinese populations.
  • [MeSH-major] Keratoderma, Palmoplantar / genetics. Mutation. Serpins / genetics

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  • [CommentOn] J Invest Dermatol. 2014 Aug;134(8):2269-72 [24514002.001]
  • (PMID = 25029323.001).
  • [ISSN] 1523-1747
  • [Journal-full-title] The Journal of investigative dermatology
  • [ISO-abbreviation] J. Invest. Dermatol.
  • [Language] eng
  • [Publication-type] Comment; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / SERPINB7 protein, human; 0 / Serpins
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48. Bergman R, Hershkovitz D, Fuchs D, Indelman M, Gadot Y, Sprecher E: Disadhesion of epidermal keratinocytes: a histologic clue to palmoplantar keratodermas caused by DSG1 mutations. J Am Acad Dermatol; 2010 Jan;62(1):107-13
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Disadhesion of epidermal keratinocytes: a histologic clue to palmoplantar keratodermas caused by DSG1 mutations.
  • BACKGROUND: Recent developments in molecular genetics may lead to re-examination of the histopathology of inherited palmoplantar keratodermas (PPKs) based on more precise groupings of the various entities and syndromes.
  • METHODS: We studied the histopathology of 3 cases of keratosis palmoplantaris striata type I and one case of diffuse PPK, all associated with autosomal-dominant mutations in DSG1.
  • Our cases for comparison included 4 cases with Mal de Meleda PPK associated with autosomal-recessive SLURP1 mutations, one case with pachyonychia congenita type II PPK associated with an autosomal-dominant KRT17 mutation, and one case with focal PPK associated with an autosomal-dominant KRT16 mutation.
  • RESULTS: The distinguishing histopathological features of the 3 keratosis palmoplantaris striata type I cases and the diffuse PPK case associated with DSG1 mutation were: varying degrees of widening of the intercellular spaces and partial disadhesion of keratinocytes in the mid and upper epidermal spinous cell layers, often extending to the granular cell layer.
  • LIMITATIONS: There were a limited number of patients and control patients with hereditary PPKs.
  • [MeSH-major] Desmoglein 1 / genetics. Epidermis / pathology. Keratinocytes / pathology. Keratoderma, Palmoplantar / genetics. Keratoderma, Palmoplantar / pathology


49. Seirafi H, Khezri S, Morowati S, Kamyabhesari K, Mirzaeipour M, Khezri F: A new variant of Vohwinkel syndrome: a case report. Dermatol Online J; 2011;17(3):3
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A new variant of Vohwinkel syndrome: a case report.
  • Vohwinkel syndrome (mutilating and diffuse palmoplantar keratoderma) is associated with various extracutaneous features including icthyosis and deafness.
  • Here we report a mutilating and focal palmoplantar keratoderma in two siblings with congenital hypotrichosis and probably autosomal recessive inheritance that appears to be a new variant of Vohwinkel syndrome.
  • [MeSH-major] Genetic Variation. Hypotrichosis / genetics. Hypotrichosis / pathology. Keratoderma, Palmoplantar / genetics. Keratoderma, Palmoplantar / pathology


50. Kubo A, Shiohama A, Sasaki T, Nakabayashi K, Kawasaki H, Atsugi T, Sato S, Shimizu A, Mikami S, Tanizaki H, Uchiyama M, Maeda T, Ito T, Sakabe J, Heike T, Okuyama T, Kosaki R, Kosaki K, Kudoh J, Hata K, Umezawa A, Tokura Y, Ishiko A, Niizeki H, Kabashima K, Mitsuhashi Y, Amagai M: Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis. Am J Hum Genet; 2013 Nov 7;93(5):945-56
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.
  • "Nagashima-type" palmoplantar keratosis (NPPK) is an autosomal recessive nonsyndromic diffuse palmoplantar keratosis characterized by well-demarcated diffuse hyperkeratosis with redness, expanding on to the dorsal surfaces of the palms and feet and the Achilles tendon area.
  • Hyperkeratosis in NPPK is mild and nonprogressive, differentiating NPPK clinically from Mal de Meleda.
  • [MeSH-major] Keratoderma, Palmoplantar / genetics. Mutation. Serpins / genetics

  • ResearchGate. author profiles.
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  • [Copyright] Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
  • [Cites] Nat Genet. 2000 Jun;25(2):141-2 [10835624.001]
  • [Cites] J Invest Dermatol. 2014 Jan;134(1):284-7 [23867895.001]
  • [Cites] Genome Res. 2000 Dec;10(12):1845-64 [11116082.001]
  • [Cites] Hum Mol Genet. 2001 Apr 1;10(8):875-80 [11285253.001]
  • [Cites] J Invest Dermatol. 2001 Apr;116(4):606-9 [11286630.001]
  • [Cites] Lancet. 2002 Jun 29;359(9325):2242-7 [12103288.001]
  • [Cites] Arch Dermatol Res. 2002 Aug;294(6):268-72 [12192490.001]
  • [Cites] Chem Rev. 2002 Dec;102(12):4751-804 [12475206.001]
  • [Cites] Cell Mol Life Sci. 2004 Feb;61(3):301-25 [14770295.001]
  • [Cites] Arch Dermatol. 1975 Jun;111(6):763-8 [1137423.001]
  • [Cites] Clin Genet. 1985 Nov;28(5):361-6 [2935332.001]
  • [Cites] J Am Acad Dermatol. 1988 Jan;18(1 Pt 1):75-86 [2450111.001]
  • [Cites] Dermatologica. 1988;177(3):138-45 [2971584.001]
  • [Cites] Arch Dermatol Res. 1990;282(6):363-70 [2260881.001]
  • [Cites] Acta Derm Venereol. 1992;72(2):120-2 [1350396.001]
  • [Cites] N Engl J Med. 1992 Dec 10;327(24):1729-33 [1435917.001]
  • [Cites] Nat Genet. 1994 Feb;6(2):174-9 [7512862.001]
  • [Cites] Br J Dermatol. 1994 Jul;131(1):1-14 [8043399.001]
  • [Cites] J Invest Dermatol. 1994 Dec;103(6):764-9 [7528239.001]
  • [Cites] Hum Mol Genet. 1994 Oct;3(10):1789-93 [7531539.001]
  • [Cites] J Clin Invest. 1998 Aug 15;102(4):828-36 [9710452.001]
  • [Cites] J Invest Dermatol. 1998 Dec;111(6):1207-9 [9856842.001]
  • [Cites] Hum Mol Genet. 1999 Jun;8(6):971-6 [10332028.001]
  • [Cites] Hum Mol Genet. 1999 Jul;8(7):1237-43 [10369869.001]
  • [Cites] Hautarzt. 1952 May;3(5):198-203 [14945735.001]
  • [Cites] Nat Genet. 2005 Jan;37(1):56-65 [15619623.001]
  • [Cites] J Am Acad Dermatol. 2005 Nov;53(5 Suppl 1):S225-30 [16227096.001]
  • [Cites] Genome Biol. 2006;7(5):216 [16737556.001]
  • [Cites] Arch Dermatol. 2008 Mar;144(3):375-9 [18347294.001]
  • [Cites] J Biol Chem. 2009 May 8;284(19):12829-36 [19286660.001]
  • [Cites] J Exp Med. 2009 May 11;206(5):1135-47 [19414552.001]
  • [Cites] J Eur Acad Dermatol Venereol. 2009 Jun;23(6):737-8 [19470072.001]
  • [Cites] Arch Immunol Ther Exp (Warsz). 2009 Sep-Oct;57(5):345-54 [19688185.001]
  • [Cites] Clin Exp Dermatol. 2009 Oct;34(7):e282-4 [19438557.001]
  • [Cites] Br J Dermatol. 2010 Jul;163(1):162-6 [20302572.001]
  • [Cites] EMBO Mol Med. 2011 Jun;3(6):320-33 [21542132.001]
  • [Cites] Am J Hum Genet. 2011 Oct 7;89(4):564-71 [21944047.001]
  • [Cites] N Engl J Med. 2012 May 24;366(21):e32 [22621642.001]
  • [Cites] J Dermatol Sci. 2012 Oct;68(1):36-44 [22906430.001]
  • [Cites] Nature. 2012 Nov 1;491(7422):56-65 [23128226.001]
  • [Cites] Genesis. 2012 Dec;50(12):899-907 [22764128.001]
  • [Cites] Am J Hum Genet. 2013 Aug 8;93(2):330-5 [23830519.001]
  • [Cites] Arch Dermatol. 2000 Oct;136(10):1247-52 [11030771.001]
  • (PMID = 24207119.001).
  • [ISSN] 1537-6605
  • [Journal-full-title] American journal of human genetics
  • [ISO-abbreviation] Am. J. Hum. Genet.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / SERPINB7 protein, human; 0 / Serpins
  • [Other-IDs] NLM/ PMC3824127
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2. Definitions


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