RecentMedicalFindings.com
Summarizing relevant biomedical research!
diffuse palmoplantar keratoderma of thost unna     Bookmark and Share
Search webpages of this site (RecentMedicalFindings):
Didn't find what you wanted? Try it at BioMedLib™ !
Search directly on the biomedical articles using BioMedLib™ search engine:



1. Biomedical articles (top 50; 2009 to 2014)
1. |||||..... 51%  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
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [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

  • Genetic Alliance. consumer health - Palmoplantar Keratoderma.
  • Genetic Alliance. consumer health - Palmoplantar keratoderma, nonepidermolytic.
  • Faculty of 1000. See the articles recommended by F1000Prime's Faculty of more than 5,000 expert scientists and clinical researchers. (subscription/membership/fee required).
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Copyright] Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
  • [Cites] Curr Opin Struct Biol. 2008 Apr;18(2):229-35 [18194855.001]
  • [Cites] Proc Natl Acad Sci U S A. 2008 Mar 4;105(9):3345-50 [18305162.001]
  • [Cites] Invest Ophthalmol Vis Sci. 2006 Oct;47(10):4365-72 [17003427.001]
  • [Cites] Clin Dermatol. 2005 Jan-Feb;23(1):15-22 [15708285.001]
  • [Cites] J Clin Invest. 1998 Jul 1;102(1):57-66 [9649557.001]
  • [Cites] Hum Mol Genet. 1995 Jun;4(6):1021-5 [7544664.001]
  • [Cites] Hum Mol Genet. 1994 Oct;3(10):1789-93 [7531539.001]
  • [Cites] J Biol Chem. 1994 May 20;269(20):14648-54 [7514176.001]
  • [Cites] J Cell Sci. 1992 Dec;103 ( Pt 4):953-64 [1487506.001]
  • [Cites] Nat Rev Mol Cell Biol. 2004 Sep;5(9):687-98 [15340377.001]
  • [Cites] J Leukoc Biol. 2002 Feb;71(2):212-22 [11818441.001]
  • [Cites] Am J Hum Genet. 2001 Oct;69(4):738-48 [11536078.001]
  • [Cites] Hum Mol Genet. 2000 Nov 1;9(18):2761-6 [11063735.001]
  • [Cites] Nat Genet. 2000 Oct;26(2):142-4 [11017065.001]
  • [Cites] Lancet. 2000 Jun 17;355(9221):2119-24 [10902626.001]
  • [Cites] J Med Genet. 2000 Jan;37(1):50-1 [10633135.001]
  • [Cites] Exp Dermatol. 1999 Oct;8(5):388-91 [10536965.001]
  • [Cites] PLoS One. 2013;8(4):e59897 [23565173.001]
  • [Cites] Br J Dermatol. 2012 Sep;167(3):575-82 [22512866.001]
  • [Cites] PLoS One. 2012;7(6):e38717 [22715407.001]
  • [Cites] J Cell Sci. 2011 Jan 15;124(Pt 2):198-206 [21172802.001]
  • [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]
  • (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
  •  go-up   go-down


2. ||||...... 44%  Das A, Kumar D, Das NK: Diffuse non-epidermolytic palmoplantar keratoderma. Indian Pediatr; 2013 Oct;50(10):979
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [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


3. ||||...... 37%  de Souza CA, Santos Ada C, Santos Lda C, Carneiro AL: [Hereditary tylosis syndrome and esophagus cancer]. An Bras Dermatol; 2009 Sep-Oct;84(5):527-9
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Hereditary tylosis syndrome and esophagus cancer].
  • [Transliterated title] Síndrome tilose hereditária e câncer de esôfago.
  • Tylosis palmoplantaris is an autosomal dominant disorder characterized by hyperkeratosis of palms and soles.
  • Familial tylosis palmoplantaris comprises two forms: epidermolytic and non-epidermolytic.
  • The association of tylosis palmoplantaris with esophageal cancer is called Howel-Evans syndrome.
  • [MeSH-major] Carcinoma, Squamous Cell / complications. Esophageal Neoplasms / complications. Keratoderma, Palmoplantar, Diffuse / complications

  • Genetic Alliance. consumer health - Hereditary Cancer.
  • Genetic Alliance. consumer health - Tylosis.
  • MedlinePlus Health Information. consumer health - Esophageal Cancer.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 20098858.001).
  • [ISSN] 1806-4841
  • [Journal-full-title] Anais brasileiros de dermatologia
  • [ISO-abbreviation] An Bras Dermatol
  • [Language] por
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Brazil
  •  go-up   go-down


Advertisement
4. |||....... 34%  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
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [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

  • Genetic Alliance. consumer health - Esophageal Cancer.
  • Genetic Alliance. consumer health - Tylosis.
  • MedlinePlus Health Information. consumer health - Esophageal Cancer.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Copyright] Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
  • [Cites] Cell. 1975 Nov;6(3):331-43 [1052771.001]
  • [Cites] Int J Oncol. 2004 Aug;25(2):389-95 [15254736.001]
  • [Cites] Development. 1992 Oct;116(2):335-46 [1363086.001]
  • [Cites] Eur J Cancer B Oral Oncol. 1994;30B(2):102-12 [8032299.001]
  • [Cites] Nat Genet. 1994 Dec;8(4):319-21 [7534553.001]
  • [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] J Cell Sci. 2011 Jun 1;124(Pt 11):1785-93 [21576352.001]
  • [Cites] Cancer Lett. 2011 Nov 1;310(1):84-93 [21757289.001]
  • [Cites] Cell. 2011 Apr 1;145(1):79-91 [21439629.001]
  • [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] Nature. 2003 May 29;423(6939):537-41 [12774122.001]
  • [Cites] Hum Genet. 2004 May;114(6):534-40 [15007728.001]
  • [Cites] EMBO J. 1988 Jun;7(6):1815-20 [2458921.001]
  • (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 / / 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
  •  go-up   go-down


5. ||........ 21%  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
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [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

  • Genetic Alliance. consumer health - Palmoplantar Keratoderma.
  • Genetic Alliance. consumer health - Palmoplantar keratoderma, epidermolytic.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [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] Br J Dermatol. 2006 Sep;155(3):624-6 [16911293.001]
  • [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] Am J Clin Dermatol. 2003;4(5):347-64 [12688839.001]
  • [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] 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 / R01 AR044924-10; 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
  •  go-up   go-down


6. |......... 15%  Lestre S, Lozano E, Meireles C, Barata Feio A: Autoimmune thyroiditis presenting as palmoplantar keratoderma. Case Rep Med; 2010;2010:604890
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [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.

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] AMA Arch Derm Syphilol. 1952 Aug;66(2):197-203 [14943265.001]
  • [Cites] Clin Exp Dermatol. 1988 Sep;13(5):339-41 [2978468.001]
  • [Cites] Mol Med Today. 1999 Mar;5(3):107-13 [10203734.001]
  • [Cites] Clin Dermatol. 2005 Jan-Feb;23(1):15-22 [15708285.001]
  • [Cites] Medicina (B Aires). 2005;65(1):47-8 [15830793.001]
  • [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] Br J Dermatol. 1998 Oct;139(4):741-2 [9892924.001]
  • (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
  •  go-up   go-down


7. |......... 4%  Cooper IF, Siadaty MS: 'Congenital abnormalities' associated with 'Diffuse': Top Publications. BioMedLib Review; CongenitalAbnormality;Diffuse:705709161. ISSN: 2331-5717. 2014/4/26
PDF icon [Fulltext service] Download fulltext PDF of this article.

  • [Title] 'Congenital abnormalities' associated with 'Diffuse': Top Publications.
  • Background: There are articles published each month which present 'congenital abnormality' for 'diffuse'.
  • Finding such articles is important for researchers, clinicians, and patients.
  • 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.
  • Kubicka-Trząska A et al: Ruthenium-106 plaque therapy for diffuse choroidal hemangioma in sturge-weber syndrome.
  • D'Cruz S et al: Autosomal dominant polycystic kidney disease with diffuse proliferative glomerulonephritis - an unusual association: a case report and review of the literature.
  • Solmaz I et al: Diffuse cerebral arteriovenous malformation.
  • Nazarian S et al: QRS prolongation in myotonic muscular dystrophy and diffuse fibrosis on cardiac magnetic resonance.
  • Du ZF et al: Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma.
  • Blaydon DC et al: Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
  • Iancu C et al: Diffuse form of Caroli's disease: therapeutical approach in a female patient with recurrent cholangitis.
  • Yonekawa Y et al: Standard fractionation low-dose proton radiotherapy for diffuse choroidal hemangiomas in pediatric Sturge-Weber syndrome.
  • Pearce P et al: Multifocal supratentorial diffuse glioma in a young patient with Ollier disease.
  • Lee MS et al: Diffuse capillary malformation with overgrowth: a clinical subtype of vascular anomalies with hypertrophy.

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Copyright] Copyright 2014 Siadaty and Cooper; licensee BioMedLib LLC.
  • (UID = 705709161.001).
  • [ISSN] 2331-5717
  • [Journal-full-title] BioMedLib Review
  • [Language] eng
  • [Publication-type] Review
  • [Publication-country] UNITED STATES
  •  go-up   go-down


8. ||||||.... 57%  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
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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


9. |||||..... 53%  Liu XP, Ling J, Xiong H, Shi XL, Sun X, Pan Q, Hu ZM, Wu LQ, Liang DS, Long ZG, Dai HP, Xia JH, Xia K: Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree. J Eur Acad Dermatol Venereol; 2009 Sep;23(9):1079-82
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree.
  • Diffuse palmoplantar keratoderma (DPPK) is an autosomal dominant genodermatosis characterized by uniform hyperkeratosis of the palm and sole epidermis.
  • This disorder can be caused by mutations in the genes keratin 1, keratin 9, keratin 16, desmoglein 1 and plakoglobin.
  • [MeSH-major] Keratin-1 / genetics. Keratoderma, Palmoplantar, Diffuse / ethnology. Keratoderma, Palmoplantar, Diffuse / genetics. Mutation, Missense / genetics. Pedigree
  • [MeSH-minor] China. Female. Genetic Predisposition to Disease / ethnology. Genetic Predisposition to Disease / genetics. Genotype. Humans. Intermediate Filaments / pathology. Male. Phenotype

  • Genetic Alliance. consumer health - Palmoplantar Keratoderma.
  • Genetics Home Reference. consumer health - KRT1 Gene.
  • Genetics Home Reference. consumer health - KRT16 Gene.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 19470048.001).
  • [ISSN] 1468-3083
  • [Journal-full-title] Journal of the European Academy of Dermatology and Venereology : JEADV
  • [ISO-abbreviation] J Eur Acad Dermatol Venereol
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Keratin-1
  •  go-up   go-down


10. ||||...... 45%  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
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [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


11. ||||...... 38%  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
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [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
  •  go-up   go-down


12. ||||...... 37%  Yusuf SM, Mijinyawa MS, Maiyaki MB, Mohammed AZ: Ichthyosis hystrix Curth-Macklin type in an African girl. Int J Dermatol; 2009 Dec;48(12):1343-5
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Ichthyosis hystrix Curth-Macklin type is a rare autosomal dominant skin disorder characterized by extensive hyperkeratosis and palmo-plantar keratoderma.
  • [MeSH-major] Ichthyosis / pathology. Keratoderma, Palmoplantar, Diffuse / pathology


13. ||||...... 36%  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
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [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


14. |||....... 33%  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
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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

  • Genetic Alliance. consumer health - Esophageal Cancer.
  • Genetic Alliance. consumer health - Tylosis.
  • MedlinePlus Health Information. consumer health - Esophageal Cancer.
  • ExactAntigen/Labome. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (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
  •  go-up   go-down


15. |||....... 32%  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
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [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


16. |||....... 31%  Winik BC, Asial RA, McGrath JA, South AP, Boente MC: Acantholytic ectodermal dysplasia: clinicopathological study of a new desmosomal disorder. Br J Dermatol; 2009 Apr;160(4):868-74
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Acantholytic ectodermal dysplasia: clinicopathological study of a new desmosomal disorder.
  • We describe two boys with curly hair, palmoplantar keratoderma and skin fragility who presented clinical and histological features similar, but not identical, to those exhibited by patients with ectodermal dysplasia-skin fragility syndrome (McGrath syndrome) and other genetic desmosomal defects such as Carvajal syndrome and Naxos disease.
  • Clinical features included trauma-induced blisters and erosions, palmoplantar keratoderma and hyperkeratotic, fissured plaques with perioral involvement.
  • Additional studies of the family history and of the desmoplakin, plakoglobin and desmoglein 1 genotype for both patients may help further elucidate the molecular cause of this variation on ectodermal dysplasia-skin fragility syndrome.
  • [MeSH-major] Desmosomes / pathology. Ectodermal Dysplasia / pathology. Hair Diseases / pathology. Keratoderma, Palmoplantar, Diffuse / pathology. Skin / pathology

  • Genetic Alliance. consumer health - Ectodermal Dysplasia.
  • MedlinePlus Health Information. consumer health - Hair Problems.
  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 19067702.001).
  • [ISSN] 1365-2133
  • [Journal-full-title] The British journal of dermatology
  • [ISO-abbreviation] Br. J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
  •  go-up   go-down


17. |||....... 29%  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
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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

  • Genetic Alliance. consumer health - Tylosis.
  • MedlinePlus Health Information. consumer health - Esophageal Cancer.
  • ExactAntigen/Labome. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [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
  •  go-up   go-down


18. |||....... 28%  Scott-Lang VE, McKay DA: Spiny keratoderma successfully treated with acitretin. Clin Exp Dermatol; 2013 Jan;38(1):91-2
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [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

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [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
  •  go-up   go-down


19. ||........ 24%  Feneran AN, Tey HL, Mills KC, Yosipovitch G: I have spikes on my hands. Clin Exp Dermatol; 2011 Dec;36(8):923-4
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [MeSH-major] Keratoderma, Palmoplantar, Diffuse / pathology

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [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
  •  go-up   go-down


20. ||........ 24%  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
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [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

  • HSDB. structure - FLUOROURACIL.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (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
  •  go-up   go-down


21. ||........ 23%  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
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [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

  • Genetic Alliance. consumer health - Palmoplantar Keratoderma.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (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
  •  go-up   go-down


22. ||........ 22%  Dereure O: [RHBDF2 mutations in familial palmoplantar keratoderma associated with tylosis oesophageal cancer]. Ann Dermatol Venereol; 2012 Aug-Sep;139(8-9):605-6
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [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

  • Genetic Alliance. consumer health - Palmoplantar Keratoderma.
  • Genetic Alliance. consumer health - Tylosis.
  • MedlinePlus Health Information. consumer health - Esophageal Cancer.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 22963978.001).
  • [ISSN] 0151-9638
  • [Journal-full-title] Annales de dermatologie et de vénéréologie
  • [ISO-abbreviation] Ann Dermatol Venereol
  • [Language] fre
  • [Publication-type] Journal Article
  • [Publication-country] France
  • [Chemical-registry-number] 0 / Membrane Proteins
  •  go-up   go-down


23. ||........ 17%  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
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [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.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [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
  •  go-up   go-down


24. ||........ 15%  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
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [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


25. |......... 12%  Stieler K, Blume-Peytavi U, Vogel A, Atugoda S: Hyperkeratoses as paraneoplastic syndrome. J Dtsch Dermatol Ges; 2012 Aug;10(8):593-5
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [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

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (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
  •  go-up   go-down


26. |......... 11%  Hinterberger L, Pföhler C, Vogt T, Müller CS: Diffuse epidermolytic palmoplantar keratoderma (Unna-Thost-). BMJ Case Rep; 2012;2012
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [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-).

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 23144341.001).
  • [ISSN] 1757-790X
  • [Journal-full-title] BMJ case reports
  • [ISO-abbreviation] BMJ Case Rep
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
  •  go-up   go-down


27. |......... 10%  Braun-Falco M: Hereditary palmoplantar keratodermas. J Dtsch Dermatol Ges; 2009 Nov;7(11):971-84; quiz 984-5
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Hereditary palmoplantar keratodermas.
  • Hereditary palmoplantar keratodermas (PPK) comprise a clinically and genetically heterogeneous group of genodermatoses, which share impaired epidermal differentiation resulting in prominent palmoplantar hyperkeratosis.
  • Classically, keratodermas have been separated according to their clinical appearance into diffuse, focal, and as a feature of ectodermal dysplasias and many other syndromes.
  • Since molecular genetic analyses have helped characterize the underlying genetic defects in an increasing number of hereditary PPK over the last two decades, a pathophysiological separation seems more reasonable.
  • Depending on tissue distribution and location of mutation with a certain gene, the clinical spectrum of PPK range from a pure palmoplantar restricted skin abnormality to a complex combination of symptoms with dental anomalies, deafness, progressive cardiomyopathy and even cancer.
  • [MeSH-major] Keratoderma, Palmoplantar. Ointments / therapeutic use. Retinoids / therapeutic use

  • Genetics Home Reference. consumer health - palmoplantar keratoderma with deafness.
  • ExactAntigen/Labome. author profiles.
  • NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 19341430.001).
  • [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] Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Dermatologic Agents; 0 / Ointments; 0 / Retinoids
  •  go-up   go-down


28. |......... 10%  Kumar KV, Shaikh A, Sharma R, Bisht YS: Palmoplantar keratoderma with growth hormone deficiency. J Pediatr Endocrinol Metab; 2012;25(3-4):327-9
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [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


29. |......... 8%  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
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [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

  • Genetic Alliance. consumer health - Palmoplantar Keratoderma.
  • Genetics Home Reference. consumer health - Condition and Gene Summaries.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Copyright] © 2011 The Authors. BJD © 2011 British Association of Dermatologists.
  • (PMID = 21801157.001).
  • [ISSN] 1365-2133
  • [Journal-full-title] The British journal of dermatology
  • [ISO-abbreviation] Br. J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Keratin-6
  •  go-up   go-down


30. |......... 8%  Dereure O: [The perennial problem of keratinisation disorders]. Ann Dermatol Venereol; 2013 Mar;140(3):240-1
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [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

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (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
  •  go-up   go-down


31. |......... 7%  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
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [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


32. |......... 6%  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
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [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

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (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
  •  go-up   go-down


33. |......... 6%  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
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [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.

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Copyright] Copyright © 2014 Elsevier B.V. All rights reserved.
  • (PMID = 24862219.001).
  • [ISSN] 1879-0038
  • [Journal-full-title] Gene
  • [ISO-abbreviation] Gene
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Netherlands
  • [Keywords] NOTNLM ; Amniocentesis / Epidermolytic palmoplantar keratoderma / KRT9 gene / Mutation / Prenatal genetic diagnosis
  •  go-up   go-down


34. |......... 5%  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
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [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 .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [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
  •  go-up   go-down


35. |......... 5%  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
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [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

  • Genetics Home Reference. consumer health - pachyonychia congenita.
  • Genetics Home Reference. consumer health - KRT16 Gene.
  • Genetics Home Reference. consumer health - KRT17 Gene.
  • ExactAntigen/Labome. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 20082890.001).
  • [ISSN] 1097-6787
  • [Journal-full-title] Journal of the American Academy of Dermatology
  • [ISO-abbreviation] J. Am. Acad. Dermatol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / DSG1 protein, human; 0 / Desmoglein 1
  •  go-up   go-down


36. |......... 5%  Tang X, Kang X, Sun M, Dili N, He Y, Wu X, Liu J, Wu W, Pu X: [Mutation analysis of a Uighur family with epidermolytic palmoplantar keratoderma]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Dec;26(6):615-9
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Mutation analysis of a Uighur family with epidermolytic palmoplantar keratoderma].
  • OBJECTIVE: To map and identify the disease gene for the epidermolytic palmoplantar keratoderma (EPPK) in a Uighur family of China.
  • The disease gene of the EPPK family is located between markers 17/TG/36620115 and D17S846.
  • CONCLUSION: The disease gene of the EPPK family is located on chromosome region 17q21.2.
  • The keratin 9 gene might not be the disease gene.
  • [MeSH-major] Keratoderma, Palmoplantar, Epidermolytic / genetics. Mutation

  • Genetic Alliance. consumer health - Palmoplantar Keratoderma.
  • Genetic Alliance. consumer health - Palmoplantar keratoderma, epidermolytic.
  • ExactAntigen/Labome. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 19953481.001).
  • [ISSN] 1003-9406
  • [Journal-full-title] Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
  • [ISO-abbreviation] Zhonghua Yi Xue Yi Chuan Xue Za Zhi
  • [Language] chi
  • [Publication-type] English Abstract; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] China
  • [Chemical-registry-number] 0 / KRT1 protein, human; 0 / KRT9 protein, human; 0 / Keratin-1; 0 / Keratin-9
  •  go-up   go-down


37. |......... 5%  Marchac A, Blanchet-Bardon C, Revol M, Servant JM: [Surgical treatment of keratosis palmaris in Mal de Meleda]. Ann Chir Plast Esthet; 2009 Apr;54(2):152-5
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Surgical treatment of keratosis palmaris in Mal de Meleda].
  • [Transliterated title] Peut-on traiter chirurgicalement le Mal de Meleda (kératodermie palmoplantaire diffuse de Siemens) ?
  • BACKGROUND: Mal de Meleda (MDM, OMIM #248300) is a rare congenital palmoplantar keratosis.
  • OBSERVATIONS: A 53-year-old patient with MDM demonstrated severe keratosis of the left hand.
  • Skin of the palm, the palmar side of the index, and the first phalangeal of third, fourth and fifth fingers were excised with a sharp rugine.
  • CONCLUSIONS: The excision of all keratosis on the palm can lead to complete cure of MDM symptoms.
  • Long term follow-up (29 years) demonstrates no recurrence of keratosis on surgically treated areas.
  • [MeSH-major] Keratoderma, Palmoplantar / surgery. Skin Transplantation / methods
  • [MeSH-minor] Groin / surgery. Humans. Male. Middle Aged. Reconstructive Surgical Procedures / methods. Reoperation. Retinoids / therapeutic use. Syndrome. Transplantation, Autologous. Treatment Outcome

  • ExactAntigen/Labome. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 19042068.001).
  • [ISSN] 1768-319X
  • [Journal-full-title] Annales de chirurgie plastique et esthétique
  • [ISO-abbreviation] Ann Chir Plast Esthet
  • [Language] fre
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] France
  • [Chemical-registry-number] 0 / Retinoids
  •  go-up   go-down


38. |......... 4%  Codispoti A, Colombo E, Zocchi L, Serra V, Pertusi G, Leigheb G, Tiberio R, Bornacina G, Zuccoli R, Ramponi A, Campione E, Melino G, Terrinoni A: Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression. Eur J Dermatol; 2009 Mar-Apr;19(2):114-8
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression.
  • Epidermolytic PalmoPlantar keratoderma (EPPK) Vörner-type is an autosomal dominantly inherited skin disease, characterized by severe thickening of the palms and soles, caused by mutations in the keratin K9 (KRT9) gene.
  • In a small number of cases, EPPK is associated with knuckle pad keratosis, but no correlation between this additional phenotype and a specific mutation has been found.
  • Here we show that in a family affected by EPPK and knuckle pad keratosis, carrying the R163W substitution, wild type (wt) and mutated K9 are strongly expressed in knuckle pads.
  • [MeSH-major] Fingers / abnormalities. Keratin-9 / genetics. Keratoderma, Palmoplantar, Epidermolytic / genetics

  • Genetic Alliance. consumer health - Palmoplantar Keratoderma.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 19106041.001).
  • [ISSN] 1167-1122
  • [Journal-full-title] European journal of dermatology : EJD
  • [ISO-abbreviation] Eur J Dermatol
  • [Language] eng
  • [Grant] Italy / Telethon / / GGP04110; United Kingdom / Medical Research Council / / MC/ U132670600
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] France
  • [Chemical-registry-number] 0 / Keratin-9
  •  go-up   go-down


39. |......... 4%  Lopez-Valdez J, Rivera-Vega MR, Gonzalez-Huerta LM, Cazarin J, Cuevas-Covarrubias S: Analysis of the KRT9 gene in a Mexican family with epidermolytic palmoplantar keratoderma. Pediatr Dermatol; 2013 May-Jun;30(3):354-8
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Analysis of the KRT9 gene in a Mexican family with epidermolytic palmoplantar keratoderma.
  • Epidermolytic palmoplantar keratoderma (EPPK), an autosomal-dominant genodermatosis, is the most frequently occurring hereditary palmoplantar keratoderma.
  • [MeSH-major] Epidermis / pathology. Keratin-9 / genetics. Keratoderma, Palmoplantar, Epidermolytic / genetics. Keratoderma, Palmoplantar, Epidermolytic / pathology

  • Genetic Alliance. consumer health - Palmoplantar Keratoderma.
  • Genetic Alliance. consumer health - Palmoplantar keratoderma, epidermolytic.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Copyright] © 2012 Wiley Periodicals, Inc.
  • (PMID = 23278372.001).
  • [ISSN] 1525-1470
  • [Journal-full-title] Pediatric dermatology
  • [ISO-abbreviation] Pediatr Dermatol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / KRT9 protein, human; 0 / Keratin-9
  •  go-up   go-down


40. |......... 4%  Liu N, Shi H, Kong X, Wu Q, Jiang M: [Mutation analysis and prenatal diagnosis of keratin 9 gene in a large Chinese family with epidermolytic palmoplantar keratoderma]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Feb;31(1):48-51
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Mutation analysis and prenatal diagnosis of keratin 9 gene in a large Chinese family with epidermolytic palmoplantar keratoderma].
  • OBJECTIVE: To analyze potential mutation in keration 9 (KRT9) gene in a large Chinese family with epidermolytic palmoplantar keratoderma (EPPK) and to perform prenatal diagnosis on the fetus at 10th gestational week.
  • [MeSH-major] Asian Continental Ancestry Group / genetics. Keratin-9 / genetics. Keratoderma, Palmoplantar, Epidermolytic / diagnosis. Keratoderma, Palmoplantar, Epidermolytic / genetics. Mutation, Missense

  • Genetic Alliance. consumer health - Palmoplantar Keratoderma.
  • Genetic Alliance. consumer health - Palmoplantar keratoderma, epidermolytic.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 24510562.001).
  • [ISSN] 1003-9406
  • [Journal-full-title] Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
  • [ISO-abbreviation] Zhonghua Yi Xue Yi Chuan Xue Za Zhi
  • [Language] chi
  • [Publication-type] English Abstract; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] China
  • [Chemical-registry-number] 0 / KRT9 protein, human; 0 / Keratin-9
  •  go-up   go-down


41. |......... 4%  Li M, Yang LJ, Hua HK, Zhu XH, Dai XY: Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family. Clin Exp Dermatol; 2009 Jan;34(1):26-8
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family.
  • Epidermolytic plamoplantar keratoderma (EPPK) is an autosomal dominant inherited disease.
  • [MeSH-major] Keratin-9 / genetics. Keratoderma, Palmoplantar, Epidermolytic / genetics. Mutation, Missense


42. |......... 4%  Li YL, Li NN, Wang YP, Li MR, Dai L, Deng Y, Liu Z, Mu DZ, Zhu J: [Mutation analysis of keratin 9 gene in a family with epidermolytic palmoplantar keratoderma]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Jun;29(3):280-3
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Mutation analysis of keratin 9 gene in a family with epidermolytic palmoplantar keratoderma].
  • OBJECTIVE: To analyze potential mutation of keration 9 gene (KRT9) in a Chinese family affected with epidermolytic palmoplantar keratoderma (EPPK) and to correlate genotype with the phenotype.
  • [MeSH-major] Keratin-9 / genetics. Keratoderma, Palmoplantar, Epidermolytic / genetics. Mutation

  • Genetic Alliance. consumer health - Palmoplantar Keratoderma.
  • Genetic Alliance. consumer health - Palmoplantar keratoderma, epidermolytic.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 22678789.001).
  • [ISSN] 1003-9406
  • [Journal-full-title] Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
  • [ISO-abbreviation] Zhonghua Yi Xue Yi Chuan Xue Za Zhi
  • [Language] chi
  • [Publication-type] English Abstract; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] China
  • [Chemical-registry-number] 0 / KRT9 protein, human; 0 / Keratin-9
  •  go-up   go-down


43. |......... 3%  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
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [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

  • ExactAntigen/Labome. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Copyright] Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
  • [Cites] Genome Res. 2000 Dec;10(12):1845-64 [11116082.001]
  • [Cites] J Clin Invest. 1998 Aug 15;102(4):828-36 [9710452.001]
  • [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] 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] J Invest Dermatol. 2014 Jan;134(1):284-7 [23867895.001]
  • [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. 2000 Oct;136(10):1247-52 [11030771.001]
  • [Cites] Nat Genet. 2000 Jun;25(2):141-2 [10835624.001]
  • [Cites] J Invest Dermatol. 1998 Dec;111(6):1207-9 [9856842.001]
  • [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] Hum Mol Genet. 2001 Apr 1;10(8):875-80 [11285253.001]
  • (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
  •  go-up   go-down


44. |......... 3%  Liu WT, Ke HP, Zhao Y, Chen XL, Lu JJ, Du ZF, Yu D, Zhang XN: The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees. Anat Rec (Hoboken); 2012 Apr;295(4):604-9
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees.
  • Epidermolytic palmoplantar keratoderma (EPPK) is generally associated with dominant-negative mutations of the Keratin 9 gene (KRT9), and rarely with the Keratin 1 gene (KRT1).
  • [MeSH-major] Asian Continental Ancestry Group / genetics. Keratin-9 / genetics. Keratoderma, Palmoplantar, Epidermolytic / genetics. Mutation / genetics


45. |......... 3%  Fu DJ, Thomson C, Lunny DP, Dopping-Hepenstal PJ, McGrath JA, Smith FJ, Irwin McLean WH, Pedrioli DM: Keratin 9 is required for the structural integrity and terminal differentiation of the palmoplantar epidermis. J Invest Dermatol; 2014 Mar;134(3):754-63
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Keratin 9 is required for the structural integrity and terminal differentiation of the palmoplantar epidermis.
  • Keratin 9 (K9) is a type I intermediate filament protein whose expression is confined to the suprabasal layers of the palmoplantar epidermis.
  • Although mutations in the K9 gene are known to cause epidermolytic palmoplantar keratoderma, a rare dominant-negative skin disorder, its functional significance is poorly understood.
  • Importantly, mice heterozygous for the K9-null allele (Krt9(+/-)) show neither an overt nor histological phenotype, demonstrating that one Krt9 allele is sufficient for the developing normal palmoplantar epidermis.
  • Together, our data demonstrate that complete ablation of K9 is not tolerable in vivo and that K9 is required for terminal differentiation and maintaining the mechanical integrity of palmoplantar epidermis.
  • [MeSH-major] Epidermis / physiology. Keratin-9 / genetics. Keratin-9 / physiology. Keratoderma, Palmoplantar, Epidermolytic / genetics
  • [MeSH-minor] Age Factors. Animals. Cell Differentiation / physiology. Cell Proliferation. Cytoskeleton / pathology. Disease Models, Animal. Hyperpigmentation / genetics. Hyperpigmentation / pathology. Mice. Mice, Inbred C57BL. Mice, Knockout. Phenotype. RNA, Small Interfering / genetics

  • Mouse Genome Informatics (MGI). Mouse Genome Informatics (MGI) .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] J Invest Dermatol. 2012 Jun;132(6):1627-35 [22402445.001]
  • [Cites] Am J Clin Dermatol. 2003;4(5):347-64 [12688839.001]
  • [Cites] Gynecol Oncol. 2000 Dec;79(3):511-4 [11104631.001]
  • [Cites] J Cell Biol. 2000 Aug 21;150(4):921-8 [10953016.001]
  • [Cites] Exp Cell Res. 1989 Sep;184(1):193-206 [2477265.001]
  • [Cites] J Cell Biol. 1986 Aug;103(2):657-67 [2426283.001]
  • [Cites] Trends Genet. 2003 May;19(5):278-85 [12711220.001]
  • [Cites] Nat Genet. 1995 Mar;9(3):273-8 [7539673.001]
  • [Cites] J Cell Biol. 1995 Jun;129(5):1329-44 [7539810.001]
  • [Cites] Br J Dermatol. 1995 Oct;133(4):501-11 [7577575.001]
  • [Cites] J Invest Dermatol. 1996 Nov;107(5):764-9 [8875963.001]
  • [Cites] J Cell Biol. 1998 Mar 23;140(6):1441-51 [9508776.001]
  • [Cites] Br J Dermatol. 1998 Nov;139(5):767-75 [9892940.001]
  • [Cites] N Engl J Med. 2004 Nov 11;351(20):2087-100 [15537907.001]
  • [Cites] Eur J Cell Biol. 2004 Dec;83(11-12):735-46 [15679118.001]
  • [Cites] Nat Rev Mol Cell Biol. 2005 Apr;6(4):328-40 [15803139.001]
  • [Cites] J Investig Dermatol Symp Proc. 2005 Oct;10(1):3-17 [16250204.001]
  • [Cites] Eur J Cell Biol. 2006 Aug;85(8):803-11 [16759736.001]
  • [Cites] Ulster Med J. 2007 May;76(2):72-82 [17476820.001]
  • [Cites] J Biol Chem. 2007 Sep 21;282(38):27557-61 [17635904.001]
  • [Cites] Cell Mol Life Sci. 2008 Oct;65(20):3126-33 [18560758.001]
  • [Cites] Eur J Dermatol. 2009 Jul-Aug;19(4):333-6 [19443303.001]
  • [Cites] J Am Acad Dermatol. 2010 Oct;63(4):607-41 [20643494.001]
  • [Cites] Hum Mol Genet. 2011 Oct 15;20(R2):R189-97 [21890491.001]
  • [Cites] J Cell Sci. 2012 Sep 1;125(Pt 17):3923-8 [23104737.001]
  • [Cites] J Invest Dermatol. 2012 May;132(5):1384-91 [22336941.001]
  • [Cites] J Cell Sci. 2002 Jul 1;115(Pt 13):2639-50 [12077355.001]
  • [Cites] Mol Biol Cell. 2001 Jun;12(6):1775-89 [11408584.001]
  • [Cites] Mol Biol Cell. 2001 Jun;12(6):1557-68 [11408568.001]
  • (PMID = 23962810.001).
  • [ISSN] 1523-1747
  • [Journal-full-title] The Journal of investigative dermatology
  • [ISO-abbreviation] J. Invest. Dermatol.
  • [Language] eng
  • [Grant] United Kingdom / Wellcome Trust / / 098439; United Kingdom / Wellcome Trust / / 098439/Z/12/Z; United Kingdom / Medical Research Council / / G0801742; United Kingdom / Medical Research Council / / G0802780; United Kingdom / Medical Research Council / / G0802780
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Keratin-9; 0 / Krt1-9 protein, mouse; 0 / RNA, Small Interfering
  • [Other-IDs] NLM/ PMC3923277
  •  go-up   go-down


46. |......... 3%  Koumantaki E, Gregoriou S, Kakrida M, Christofidou E, Katsambas A: What is your diagnosis? Diffuse nonepidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy (Naxos-Carvajal syndrome). Cutis; 2010 Apr;85(4):180, 189-90
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] What is your diagnosis? Diffuse nonepidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy (Naxos-Carvajal syndrome).
  • [MeSH-major] Cardiomyopathies / diagnosis. Hair Diseases / diagnosis. Keratoderma, Palmoplantar / diagnosis
  • [MeSH-minor] Cardiomyopathy, Hypertrophic / complications. Diagnosis, Differential. Female. Hair / abnormalities. Humans. Middle Aged. Syndrome


47. |......... 3%  Fuchs-Telem D, Padalon-Brauch G, Sarig O, Sprecher E: Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site in KRT9. Clin Exp Dermatol; 2013 Mar;38(2):189-92: quiz 192
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site in KRT9.
  • Epidermolytic palmoplantar keratoderma (EPPK) is caused by mutations in KRT9 and less often, KRT1.
  • [MeSH-major] Keratin-9 / genetics. Keratoderma, Palmoplantar, Epidermolytic / genetics. Mutation, Missense / genetics. RNA Splice Sites / genetics

  • Genetic Alliance. consumer health - Palmoplantar Keratoderma.
  • Genetic Alliance. consumer health - Palmoplantar keratoderma, epidermolytic.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Copyright] © The Author(s) CED © 2013 British Association of Dermatologists.
  • (PMID = 23397986.001).
  • [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
  • [Chemical-registry-number] 0 / Keratin-9; 0 / RNA Splice Sites
  •  go-up   go-down


48. |......... 3%  Mahoney MG, Sadowski S, Brennan D, Pikander P, Saukko P, Wahl J, Aho H, Heikinheimo K, Bruckner-Tuderman L, Fertala A, Peltonen J, Uitto J, Peltonen S: Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. J Invest Dermatol; 2010 Apr;130(4):968-78
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • In this study, we present a patient with extensive mucocutaneous blisters, epidermolytic palmoplantar keratoderma, nail dystrophy, enamel dysplasia, and sparse woolly hair.
  • [MeSH-major] Abnormalities, Multiple / genetics. Desmoplakins / genetics. Heart Defects, Congenital / genetics. Keratoderma, Palmoplantar, Epidermolytic / genetics. Skin Abnormalities / genetics. Tooth Abnormalities / genetics
  • [MeSH-minor] Adolescent. Dental Enamel / abnormalities. Desmosomes / pathology. Desmosomes / physiology. Family Health. Fatal Outcome. Female. Hair / abnormalities. Heterozygote. Humans. Mouth Mucosa / pathology. Mouth Mucosa / physiology. Mutation, Missense. Nail Diseases / genetics. Nail Diseases / pathology. Phenotype. Protein Structure, Tertiary

  • MedlinePlus Health Information. consumer health - Congenital Heart Defects.
  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [CommentIn] J Invest Dermatol. 2010 Apr;130(4):916 [20231827.001]
  • (PMID = 19924139.001).
  • [ISSN] 1523-1747
  • [Journal-full-title] The Journal of investigative dermatology
  • [ISO-abbreviation] J. Invest. Dermatol.
  • [Language] eng
  • [Grant] United States / NIAMS NIH HHS / AR / AR049537-06; United States / NIAMS NIH HHS / AR / AR055251; United States / NIDCR NIH HHS / DE / DE016905; United States / NIAMS NIH HHS / AR / P01 AR038923; United States / NIAMS NIH HHS / AR / P01AR38923; United States / NIAMS NIH HHS / AR / R01 AR049537; United States / NIDCR NIH HHS / DE / R01 DE016905; United States / NIAMS NIH HHS / AR / R21 AR055251
  • [Publication-type] Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / DSP protein, human; 0 / Desmoplakins
  •  go-up   go-down


49. |......... 3%  Attia AM, Bakry OA: Olmsted syndrome. J Dermatol Case Rep; 2013 Jun 30;7(2):42-5
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Olmsted syndrome.
  • BACKGROUND: Olmsted syndrome is a rare keratinization disorder characterized by a combination of periorificial keratotic plaques and bilateral palmoplantar transgredient keratoderma.
  • Other clinical manifestations include diffuse alopecia, leukokeratosis of the oral mucosa, onychodystrophy, hyperkeratotic linear streaks, follicular hyperkeratosis and constriction of digits.
  • MAIN OBSERVATIONS: We report a case of Olmsted syndrome in a 5-year-old male presented by mutilating palmoplantar keratoderma, perioral keratoses and linear hyperkeratotic lower limb plaques.
  • CONCLUSIONS: Olmsted syndrome is a rare genodermatosis with only 43 cases reported so far.
  • We present another case of the disease.

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 23858339.001).
  • [ISSN] 1898-7249
  • [Journal-full-title] Journal of dermatological case reports
  • [ISO-abbreviation] J Dermatol Case Rep
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Poland
  • [Other-IDs] NLM/ PMC3710676
  • [Keywords] NOTNLM ; Olmsted syndrome / alopecia / feet / genodermatosis / palmoplantar keratoderma
  •  go-up   go-down


50. |......... 3%  Tharini GK, Hema N, Jayakumar S, Parveen B: Olmsted syndrome: report of two cases. Indian J Dermatol; 2011 Sep-Oct;56(5):591-3
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Olmsted syndrome: report of two cases.
  • Olmsted syndrome is an uncommon genetic disorder with symmetrical, diffuse, transgredient, mutilating palmoplantar keratoderma and periorificial hyperkeratosis.
  • Olmsted syndrome in a female patient is particularly rare, and we report two unrelated female patients of Olmsted syndrome, who presented with perioral hyperkeratosis and palmoplantar keratoderma.
  • Hence, the diagnosis of Olmsted syndrome was made.

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 22121289.001).
  • [ISSN] 1998-3611
  • [Journal-full-title] Indian journal of dermatology
  • [ISO-abbreviation] Indian J Dermatol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] India
  • [Other-IDs] NLM/ PMC3221234
  • [Keywords] NOTNLM ; Olmsted syndrome / palmoplantar keratoderma / perioral hyperkeratosis / woolly hair
  •  go-up   go-down


top


2. Definitions


3. Related RMF webpages
1. diffuse palmoplantar keratoderma of thost unna
2. keratoderma palmoplantar diffuse
3. keratoderma palmoplantar
4. keratoderma palmoplantar epidermolytic
5. diffuse non hodgkin's small cleaved cell diffuse lymphoma
6. diffuse non hodgkin's immunoblastic diffuse lymphoma
7. congenital keratoderma disorder
8. ppp palmoplantar pustulosis
9. lymphoma large cell diffuse with small cell diffuse
10. lymphoma diffuse
11. diffuse peritonitides
12. tuberculosis diffuse
13. scleroderma diffuse
14. diffuse tuberculous
15. diffuse pulmonary fibrosis
16. malignant lymphoma diffuse
17. diffuse goiter disorder
18. goiter toxic diffuse
19. brain injuries diffuse
20. contusions diffuse cerebral
21. cerebral injury diffuse
22. lymphocytic lymphoma diffuse
23. brain sclerosis diffuse
24. diffuse bronchitis obstructive
25. diffuse muscle atrophy
26. adenocarcinoma diffuse type
27. leishmaniasis diffuse cutaneous
28. esophageal spasm diffuse
29. cerebral sclerosis diffuse
30. diffuse axonal injury
31. cutaneous leishmaniases diffuse
32. diffuse cerebral sclerosis of schilder
33. acute diffuse proliferative glomerulonephritis
34. diffuse spasm of esophagus disorder
35. proliferative diffuse glomerulonephritis nos
36. diffuse mixed cell lymphomas
37. hyperostosis diffuse idiopathic skeletal
38. alveolitis chronic diffuse fibrosing
39. chronic diffuse proliferative glomerulonephritis
40. diffuse lymphoma small cell lymphocytic
41. lymphoma large b cell diffuse
42. fibrosis lung diffuse idiopathic interstitial
43. diffuse non hodgkin's lymphoma disorder
44. diffuse large b cell lymphoma
45. diffuse disease of connective tissue nos
46. diffuse non hodgkin's lymphoma undifferentiated
47. diffuse lymphocytic cell type malignant lymphoma
48. chronic nephritic syndrome diffuse membranous glomerulonephritis
49. lymphoma large cell diffuse ki 1
50. diffuse hyperplasia of bronchus associated lymphoid tissue

top


terms of use | advertising programs | contact us
© 2014 RecentMedicalFindings


Connect with the


RMF


audience;




Post your ad here!