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; 2010 to 2015)
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.
  • ResearchGate. author profiles.
  • 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] Exp Dermatol. 1999 Oct;8(5):388-91 [10536965.001]
  • [Cites] PLoS One. 2013;8(4):e59897 [23565173.001]
  • [Cites] Lancet. 2000 Jun 17;355(9221):2119-24 [10902626.001]
  • [Cites] Nat Genet. 2000 Oct;26(2):142-4 [11017065.001]
  • [Cites] Hum Mol Genet. 2000 Nov 1;9(18):2761-6 [11063735.001]
  • [Cites] Am J Hum Genet. 2001 Oct;69(4):738-48 [11536078.001]
  • [Cites] J Leukoc Biol. 2002 Feb;71(2):212-22 [11818441.001]
  • [Cites] Nat Rev Mol Cell Biol. 2004 Sep;5(9):687-98 [15340377.001]
  • [Cites] J Cell Sci. 1992 Dec;103 ( Pt 4):953-64 [1487506.001]
  • [Cites] J Biol Chem. 1994 May 20;269(20):14648-54 [7514176.001]
  • [Cites] Hum Mol Genet. 1994 Oct;3(10):1789-93 [7531539.001]
  • [Cites] Hum Mol Genet. 1995 Jun;4(6):1021-5 [7544664.001]
  • [Cites] J Clin Invest. 1998 Jul 1;102(1):57-66 [9649557.001]
  • [Cites] Clin Dermatol. 2005 Jan-Feb;23(1):15-22 [15708285.001]
  • [Cites] Invest Ophthalmol Vis Sci. 2006 Oct;47(10):4365-72 [17003427.001]
  • [Cites] Proc Natl Acad Sci U S A. 2008 Mar 4;105(9):3345-50 [18305162.001]
  • [Cites] Curr Opin Struct Biol. 2008 Apr;18(2):229-35 [18194855.001]
  • [Cites] Proc Natl Acad Sci U S A. 2008 Sep 9;105(36):13327-32 [18768791.001]
  • [Cites] FEBS Lett. 2010 Jun 18;584(12):2580-8 [20416297.001]
  • [Cites] PLoS One. 2010;5(12):e14226 [21151978.001]
  • [Cites] J Cell Sci. 2011 Jan 15;124(Pt 2):198-206 [21172802.001]
  • [Cites] PLoS One. 2012;7(6):e38717 [22715407.001]
  • [Cites] Br J Dermatol. 2012 Sep;167(3):575-82 [22512866.001]
  • [Cites] J Med Genet. 2000 Jan;37(1):50-1 [10633135.001]
  • (PMID = 23830519.001).
  • [ISSN] 1537-6605
  • [Journal-full-title] American journal of human genetics
  • [ISO-abbreviation] Am. J. Hum. Genet.
  • [Language] eng
  • [Grant] United Kingdom / Wellcome Trust / / 098439; United Kingdom / Medical Research Council / / G0802780; United Kingdom / Medical Research Council / / G1001158; United Kingdom / Medical Research Council / / MC/ U120088463
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / AQP5 protein, human; 0 / Aquaporin 5; 059QF0KO0R / Water; Palmoplantar Keratoderma, Nonepidermolytic
  • [Other-IDs] NLM/ PMC3738836
  •  go-up   go-down


2. ||||...... 40%  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. ||||...... 39%  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.
  • ResearchGate. author profiles.
  • (NIF). Clinical Genomic Database: Data: Gene Annotation .
  • [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] Cancer Lett. 2011 Nov 1;310(1):84-93 [21757289.001]
  • [Cites] J Cell Sci. 2011 Jun 1;124(Pt 11):1785-93 [21576352.001]
  • [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] Int J Oncol. 2004 Aug;25(2):389-95 [15254736.001]
  • [Cites] Cell. 1975 Nov;6(3):331-43 [1052771.001]
  • [Cites] EMBO J. 1988 Jun;7(6):1815-20 [2458921.001]
  • [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] Cell. 2011 Apr 1;145(1):79-91 [21439629.001]
  • [Cites] Cell. 2001 Oct 19;107(2):173-82 [11672525.001]
  • (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 / / 13044; United Kingdom / Cancer Research UK / / C5314/A6695; United Kingdom / Cancer Research UK / / C7738/A10476
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Untranslated Regions; EC 2.7.10.1 / EGFR protein, human; EC 2.7.10.1 / Receptor, Epidermal Growth Factor; EC 3.4.- / Serine Proteases; EC 3.4.21.105 / RHBDL2 protein, human
  • [Other-IDs] NLM/ PMC3276661
  •  go-up   go-down


Advertisement
4. ||........ 24%  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] Am J Clin Dermatol. 2003;4(5):347-64 [12688839.001]
  • [Cites] Curr Opin Cell Biol. 2002 Feb;14(1):110-22 [11792552.001]
  • [Cites] J Invest Dermatol. 2002 Oct;119(4):966-71 [12406346.001]
  • [Cites] Acta Derm Venereol. 2003;83(2):135-7 [12735645.001]
  • [Cites] Br J Dermatol. 2004 Jun;150(6):1096-103 [15214894.001]
  • [Cites] J Pathol. 2004 Nov;204(4):355-66 [15495218.001]
  • [Cites] Cell. 1990 Aug 24;62(4):681-96 [1696851.001]
  • [Cites] Hum Genet. 1992 Sep-Oct;90(1-2):113-6 [1385292.001]
  • [Cites] Differentiation. 1993 Dec;55(1):57-71 [7507869.001]
  • [Cites] Nat Genet. 1994 Feb;6(2):174-9 [7512862.001]
  • [Cites] J Invest Dermatol. 1998 Dec;111(6):1207-9 [9856842.001]
  • [Cites] Br J Dermatol. 1999 Mar;140(3):486-90 [10233272.001]
  • [Cites] Arch Dermatol Res. 2005 Feb;296(8):375-8 [15605275.001]
  • [Cites] Br J Dermatol. 2005 Apr;152(4):804-6 [15840121.001]
  • [Cites] J Invest Dermatol. 2006 Mar;126(3):607-13 [16439967.001]
  • [Cites] J Cell Biol. 2006 Jul 17;174(2):169-74 [16831889.001]
  • [Cites] Br J Dermatol. 2006 Sep;155(3):624-6 [16911293.001]
  • [Cites] J Invest Dermatol. 2001 Apr;116(4):606-9 [11286630.001]
  • (PMID = 19874353.001).
  • [ISSN] 1365-2230
  • [Journal-full-title] Clinical and experimental dermatology
  • [ISO-abbreviation] Clin. Exp. Dermatol.
  • [Language] eng
  • [Grant] United States / NIAMS NIH HHS / AR / R01 AR044924; United States / NIAMS NIH HHS / AR / R01AR44924
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] England
  • [Chemical-registry-number] 0 / KRT9 protein, human; 0 / Keratin-9
  • [Other-IDs] NLM/ NIHMS142982; NLM/ PMC2945290
  •  go-up   go-down


5. ||........ 17%  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.

  • ExactAntigen/Labome. author profiles.
  • ResearchGate. author profiles.
  • NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Clin Dermatol. 2005 Jan-Feb;23(1):15-22 [15708285.001]
  • [Cites] Mol Med Today. 1999 Mar;5(3):107-13 [10203734.001]
  • [Cites] Br J Dermatol. 2006 May;154(5):999-1000 [16634912.001]
  • [Cites] Am J Clin Dermatol. 2007;8(1):1-11 [17298101.001]
  • [Cites] Eur J Intern Med. 2009 Mar;20(2):158-61 [19327604.001]
  • [Cites] Arch Fam Med. 2000 Aug;9(8):743-7 [10927715.001]
  • [Cites] J Am Acad Dermatol. 2003 May;48(5):641-59; quiz 660-2 [12734493.001]
  • [Cites] J Endocrinol Invest. 2001 Sep;24(8):628-38 [11686547.001]
  • [Cites] Clin Exp Dermatol. 1977 Sep;2(3):287-8 [923157.001]
  • [Cites] Acta Derm Venereol. 1986;66(4):354-7 [2430412.001]
  • [Cites] Dermatologica. 1986;172(5):258-62 [2943612.001]
  • [Cites] Clin Exp Dermatol. 1988 Sep;13(5):339-41 [2978468.001]
  • [Cites] AMA Arch Derm Syphilol. 1952 Aug;66(2):197-203 [14943265.001]
  • [Cites] Br J Dermatol. 1998 Oct;139(4):741-2 [9892924.001]
  • [Cites] Medicina (B Aires). 2005;65(1):47-8 [15830793.001]
  • (PMID = 20300544.001).
  • [ISSN] 1687-9635
  • [Journal-full-title] Case reports in medicine
  • [ISO-abbreviation] Case Rep Med
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Other-IDs] NLM/ PMC2838360
  •  go-up   go-down


6. |||||||... 65%  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


7. |||||..... 52%  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


8. ||||...... 43%  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

  • ResearchGate. author profiles.
  • [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


9. ||||...... 42%  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


10. ||||...... 38%  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.
  • ResearchGate. 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


11. ||||...... 37%  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


12. |||....... 34%  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.
  • ResearchGate. 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


13. |||....... 32%  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

  • ResearchGate. author profiles.
  • [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


14. |||....... 28%  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

  • ResearchGate. author profiles.
  • [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


15. |||....... 28%  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


16. |||....... 27%  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-).
  • [MeSH-major] Keratins, Hair-Specific / genetics. Keratins, Type II / genetics. Keratoderma, Palmoplantar. Keratoderma, Palmoplantar, Diffuse. Keratoderma, Palmoplantar, Epidermolytic. Mutation. Skin / pathology

  • [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
  • [Chemical-registry-number] 0 / KRT81 protein, human; 0 / Keratins, Hair-Specific; 0 / Keratins, Type II
  •  go-up   go-down


17. |||....... 25%  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


18. ||........ 21%  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.
  • ResearchGate. author profiles.
  • [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


19. ||........ 19%  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.
  • [MeSH-major] Fetal Diseases / genetics. Keratin-9 / genetics. Keratoderma, Palmoplantar, Epidermolytic / diagnosis. Keratoderma, Palmoplantar, Epidermolytic / genetics. Mutation


20. ||........ 19%  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


21. ||........ 18%  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


22. |......... 14%  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

  • ResearchGate. author profiles.
  • [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


23. |......... 12%  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


24. |......... 10%  Lee JY, In SI, Kim HJ, Jeong SY, Choung YH, Kim YC: Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26. J Korean Med Sci; 2010 Oct;25(10):1539-42
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 palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.
  • A 3-yr-old Korean female and her mother presented to our clinic with diffuse hyperkeratosis of the palms and soles (May 3, 2007).
  • Skin biopsies from the soles of both patients demonstrated histopathological evidence of palmoplantar keratoderma.
  • The combination of congenital hearing loss and palmoplantar keratoderma, inherited as an autosomal dominant trait, led us to test for a mutation in the GJB2 gene in both patients.
  • In conclusion, the simultaneous occurrence of a GJB2 mutation in a mother and daughter suggests that R75W mutation cause autosomal dominant hearing loss presenting with palmoplantar keratoderma.
  • To the best of our knowledge, this is the first report of a GJB2 mutation associated with syndromic autosomal dominant hearing loss and palmoplantar keratoderma in a Korean family.
  • [MeSH-major] Connexins / genetics. Deafness / genetics. Keratoderma, Palmoplantar / genetics. Mutation


25. |......... 9%  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


26. |......... 9%  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


27. |......... 9%  Guo Y, Shi M, Tan ZP, Shi XL: Possible anticipation in familial epidermolytic palmoplantar keratoderma with the p.R163W mutation of Keratin 9. Genet Mol Res; 2014;13(4):8089-93
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] Possible anticipation in familial epidermolytic palmoplantar keratoderma with the p.R163W mutation of Keratin 9.
  • Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant disease characterized by diffuse hyperkeratosis of the epidermis of the palm and sole with an erythematous margin.

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 25299193.001).
  • [ISSN] 1676-5680
  • [Journal-full-title] Genetics and molecular research : GMR
  • [ISO-abbreviation] Genet. Mol. Res.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Brazil
  •  go-up   go-down


28. |......... 8%  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


29. |......... 7%  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


30. |......... 6%  Mizuno O, Nomura T, Suzuki S, Takeda M, Ohguchi Y, Fujita Y, Nishie W, Sugiura K, Akiyama M, Shimizu H: Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis. Br J Dermatol; 2014 Oct;171(4):847-53
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] Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis.
  • BACKGROUND: Nagashima-type palmoplantar keratosis (NPPK) is a distinct autosomal recessive genodermatosis characterized by diffuse transgressive palmoplantar keratoderma (PPK).

  • ResearchGate. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Copyright] © 2014 British Association of Dermatologists.
  • (PMID = 24773080.001).
  • [ISSN] 1365-2133
  • [Journal-full-title] The British journal of dermatology
  • [ISO-abbreviation] Br. J. Dermatol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  •  go-up   go-down


31. |......... 6%  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 .
  • NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .
  • [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


32. |......... 6%  Kubo A: Nagashima-type palmoplantar keratosis: a common Asian type caused by SERPINB7 protease inhibitor deficiency. J Invest Dermatol; 2014 Aug;134(8):2076-9
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] Nagashima-type palmoplantar keratosis: a common Asian type caused by SERPINB7 protease inhibitor deficiency.
  • Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive diffuse non-epidermolytic palmoplantar keratosis caused by mutations in SERPINB7, a member of the serine protease inhibitor superfamily.
  • Genetic studies suggest that NPPK is the most common palmoplantar keratosis in Japan, and probably Asia, but one that is extremely rare in Western countries.
  • In this issue, Yin et al. report a founder effect of a SERPINB7 mutation in Chinese populations.
  • [MeSH-major] Keratoderma, Palmoplantar / genetics. Mutation. Serpins / genetics

  • ResearchGate. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [CommentOn] J Invest Dermatol. 2014 Aug;134(8):2269-72 [24514002.001]
  • (PMID = 25029323.001).
  • [ISSN] 1523-1747
  • [Journal-full-title] The Journal of investigative dermatology
  • [ISO-abbreviation] J. Invest. Dermatol.
  • [Language] eng
  • [Publication-type] Comment; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / SERPINB7 protein, human; 0 / Serpins
  •  go-up   go-down


33. |......... 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


34. |......... 5%  Seirafi H, Khezri S, Morowati S, Kamyabhesari K, Mirzaeipour M, Khezri F: A new variant of Vohwinkel syndrome: a case report. Dermatol Online J; 2011;17(3):3
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] A new variant of Vohwinkel syndrome: a case report.
  • Vohwinkel syndrome (mutilating and diffuse palmoplantar keratoderma) is associated with various extracutaneous features including icthyosis and deafness.
  • Here we report a mutilating and focal palmoplantar keratoderma in two siblings with congenital hypotrichosis and probably autosomal recessive inheritance that appears to be a new variant of Vohwinkel syndrome.
  • [MeSH-major] Genetic Variation. Hypotrichosis / genetics. Hypotrichosis / pathology. Keratoderma, Palmoplantar / genetics. Keratoderma, Palmoplantar / pathology


35. |......... 4%  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.
  • ResearchGate. author profiles.
  • (NIF). Clinical Genomic Database: Data: Gene Annotation .
  • [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] Nat Genet. 2000 Jun;25(2):141-2 [10835624.001]
  • [Cites] J Invest Dermatol. 2014 Jan;134(1):284-7 [23867895.001]
  • [Cites] Genome Res. 2000 Dec;10(12):1845-64 [11116082.001]
  • [Cites] Hum Mol Genet. 2001 Apr 1;10(8):875-80 [11285253.001]
  • [Cites] J Invest Dermatol. 2001 Apr;116(4):606-9 [11286630.001]
  • [Cites] Lancet. 2002 Jun 29;359(9325):2242-7 [12103288.001]
  • [Cites] Arch Dermatol Res. 2002 Aug;294(6):268-72 [12192490.001]
  • [Cites] Chem Rev. 2002 Dec;102(12):4751-804 [12475206.001]
  • [Cites] Cell Mol Life Sci. 2004 Feb;61(3):301-25 [14770295.001]
  • [Cites] Arch Dermatol. 1975 Jun;111(6):763-8 [1137423.001]
  • [Cites] Clin Genet. 1985 Nov;28(5):361-6 [2935332.001]
  • [Cites] J Am Acad Dermatol. 1988 Jan;18(1 Pt 1):75-86 [2450111.001]
  • [Cites] Dermatologica. 1988;177(3):138-45 [2971584.001]
  • [Cites] Arch Dermatol Res. 1990;282(6):363-70 [2260881.001]
  • [Cites] Acta Derm Venereol. 1992;72(2):120-2 [1350396.001]
  • [Cites] N Engl J Med. 1992 Dec 10;327(24):1729-33 [1435917.001]
  • [Cites] Nat Genet. 1994 Feb;6(2):174-9 [7512862.001]
  • [Cites] Br J Dermatol. 1994 Jul;131(1):1-14 [8043399.001]
  • [Cites] J Invest Dermatol. 1994 Dec;103(6):764-9 [7528239.001]
  • [Cites] Hum Mol Genet. 1994 Oct;3(10):1789-93 [7531539.001]
  • [Cites] J Clin Invest. 1998 Aug 15;102(4):828-36 [9710452.001]
  • [Cites] J Invest Dermatol. 1998 Dec;111(6):1207-9 [9856842.001]
  • [Cites] Hum Mol Genet. 1999 Jun;8(6):971-6 [10332028.001]
  • [Cites] Hum Mol Genet. 1999 Jul;8(7):1237-43 [10369869.001]
  • [Cites] Hautarzt. 1952 May;3(5):198-203 [14945735.001]
  • [Cites] Nat Genet. 2005 Jan;37(1):56-65 [15619623.001]
  • [Cites] J Am Acad Dermatol. 2005 Nov;53(5 Suppl 1):S225-30 [16227096.001]
  • [Cites] Genome Biol. 2006;7(5):216 [16737556.001]
  • [Cites] Arch Dermatol. 2008 Mar;144(3):375-9 [18347294.001]
  • [Cites] J Biol Chem. 2009 May 8;284(19):12829-36 [19286660.001]
  • [Cites] J Exp Med. 2009 May 11;206(5):1135-47 [19414552.001]
  • [Cites] J Eur Acad Dermatol Venereol. 2009 Jun;23(6):737-8 [19470072.001]
  • [Cites] Arch Immunol Ther Exp (Warsz). 2009 Sep-Oct;57(5):345-54 [19688185.001]
  • [Cites] Clin Exp Dermatol. 2009 Oct;34(7):e282-4 [19438557.001]
  • [Cites] Br J Dermatol. 2010 Jul;163(1):162-6 [20302572.001]
  • [Cites] EMBO Mol Med. 2011 Jun;3(6):320-33 [21542132.001]
  • [Cites] Am J Hum Genet. 2011 Oct 7;89(4):564-71 [21944047.001]
  • [Cites] N Engl J Med. 2012 May 24;366(21):e32 [22621642.001]
  • [Cites] J Dermatol Sci. 2012 Oct;68(1):36-44 [22906430.001]
  • [Cites] Nature. 2012 Nov 1;491(7422):56-65 [23128226.001]
  • [Cites] Genesis. 2012 Dec;50(12):899-907 [22764128.001]
  • [Cites] Am J Hum Genet. 2013 Aug 8;93(2):330-5 [23830519.001]
  • [Cites] Arch Dermatol. 2000 Oct;136(10):1247-52 [11030771.001]
  • (PMID = 24207119.001).
  • [ISSN] 1537-6605
  • [Journal-full-title] American journal of human genetics
  • [ISO-abbreviation] Am. J. Hum. Genet.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / SERPINB7 protein, human; 0 / Serpins
  • [Other-IDs] NLM/ PMC3824127
  •  go-up   go-down


36. |......... 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.
  • ResearchGate. author profiles.
  • [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


37. |......... 4%  Ashwani P, Swapna K, Rani SM, Reddy BS: Papillon-Lefevre syndrome with pseudoainhum. Indian Dermatol Online J; 2010 Jul;1(1):33-5
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] Papillon-Lefevre syndrome with pseudoainhum.
  • An interesting episode of Papillon-Lefevre syndrome in a 25-year-old female with diffuse palmoplantar keratoderma, periodontitis and pseudoainhum of the toes is reported for academic interest.

  • ResearchGate. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] J Clin Pathol. 1996 Mar;49(3):255-7 [8675741.001]
  • [Cites] J Periodontal Res. 1997 Jan;32(1 Pt 2):81-9 [9085215.001]
  • [Cites] Am J Med Genet. 1998 Sep 1;79(2):134-9 [9741471.001]
  • [Cites] Pediatr Dermatol. 2001 Jan-Feb;18(1):45-7 [11207971.001]
  • [Cites] Pediatrics. 2003 Jan;111(1):e85-8 [12509601.001]
  • [Cites] J Am Acad Dermatol. 2004 Aug;51(2 Suppl):S134-6 [15280834.001]
  • [Cites] J Am Acad Dermatol. 2002 Feb;46(2 Suppl Case Reports):S8-10 [11807457.001]
  • (PMID = 23130191.001).
  • [ISSN] 2229-5178
  • [Journal-full-title] Indian dermatology online journal
  • [ISO-abbreviation] Indian Dermatol Online J
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] India
  • [Other-IDs] NLM/ PMC3481405
  • [Keywords] NOTNLM ; Papillon-Lefevre syndrome / palmoplantar keratoderma
  •  go-up   go-down


38. |......... 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.
  • ResearchGate. author profiles.
  • [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


39. |......... 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.
  • ExactAntigen/Labome. author profiles.
  • [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


40. |......... 4%  Roth W, Hatzfeld M, Magin TM: Targeting the palm: a leap forward toward treatment of keratin disorders. J Invest Dermatol; 2012 Jun;132(6):1541-2
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.
  • Among keratinopathies, epidermolytic palmoplantar keratoderma stands out by virtue of hotspot mutations in the KRT9 gene, exclusively expressed in the palmoplantar epidermis.
  • In this issue, Leslie Pedrioli et al. report on the successful application of KRT9-specific siRNAs in cultured cells and in a mouse model.
  • [MeSH-major] Genetic Therapy / methods. Individualized Medicine / methods. Keratin-9 / genetics. Keratoderma, Palmoplantar, Epidermolytic / genetics. Keratoderma, Palmoplantar, Epidermolytic / therapy. RNA, Small Interfering / pharmacology

  • ResearchGate. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [CommentOn] J Invest Dermatol. 2012 Jun;132(6):1627-35 [22402445.001]
  • (PMID = 22584502.001).
  • [ISSN] 1523-1747
  • [Journal-full-title] The Journal of investigative dermatology
  • [ISO-abbreviation] J. Invest. Dermatol.
  • [Language] eng
  • [Publication-type] Comment; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / KRT9 protein, human; 0 / Keratin-9; 0 / RNA, Small Interfering
  •  go-up   go-down


41. |......... 4%  Leslie Pedrioli DM, Fu DJ, Gonzalez-Gonzalez E, Contag CH, Kaspar RL, Smith FJ, McLean WH: Generic and personalized RNAi-based therapeutics for a dominant-negative epidermal fragility disorder. J Invest Dermatol; 2012 Jun;132(6):1627-35
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] Generic and personalized RNAi-based therapeutics for a dominant-negative epidermal fragility disorder.
  • Epidermolytic palmoplantar keratoderma (EPPK) is one of >30 autosomal-dominant human keratinizing disorders that could benefit from RNA interference (RNAi)-based therapy.
  • This, along with the fact that EPPK is predominantly caused by a few hotspot mutations, makes it an ideal proof-of-principle model skin disease to develop gene-specific, as well as mutation-specific, short interfering RNA (siRNA) therapies.
  • [MeSH-major] Genetic Therapy / methods. Individualized Medicine / methods. Keratin-9 / genetics. Keratoderma, Palmoplantar, Epidermolytic / genetics. Keratoderma, Palmoplantar, Epidermolytic / therapy. RNA, Small Interfering / pharmacology
  • [MeSH-minor] Animals. Cell Line. Disease Models, Animal. Epidermis / physiology. Female. Humans. Keratinocytes / cytology. Kidney / cytology. Luciferases / genetics. Mice. Mice, Inbred Strains

  • ResearchGate. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [CommentIn] J Invest Dermatol. 2012 Jun;132(6):1541-2 [22584502.001]
  • (PMID = 22402445.001).
  • [ISSN] 1523-1747
  • [Journal-full-title] The Journal of investigative dermatology
  • [ISO-abbreviation] J. Invest. Dermatol.
  • [Language] eng
  • [Grant] United Kingdom / Medical Research Council / / G0801742; 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 / KRT9 protein, human; 0 / Keratin-9; 0 / Krt1-9 protein, mouse; 0 / RNA, Small Interfering; EC 1.13.12.- / Luciferases
  •  go-up   go-down


42. |......... 4%  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


43. |......... 4%  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


44. |......... 4%  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

  • ResearchGate. author profiles.
  • 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 Cell Biol. 2000 Aug 21;150(4):921-8 [10953016.001]
  • [Cites] J Cell Sci. 2012 Sep 1;125(Pt 17):3923-8 [23104737.001]
  • [Cites] Mol Biol Cell. 2001 Jun;12(6):1557-68 [11408568.001]
  • [Cites] Mol Biol Cell. 2001 Jun;12(6):1775-89 [11408584.001]
  • [Cites] J Cell Sci. 2002 Jul 1;115(Pt 13):2639-50 [12077355.001]
  • [Cites] Am J Clin Dermatol. 2003;4(5):347-64 [12688839.001]
  • [Cites] Trends Genet. 2003 May;19(5):278-85 [12711220.001]
  • [Cites] J Cell Biol. 1986 Aug;103(2):657-67 [2426283.001]
  • [Cites] Exp Cell Res. 1989 Sep;184(1):193-206 [2477265.001]
  • [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 Invest Dermatol. 2012 May;132(5):1384-91 [22336941.001]
  • [Cites] J Invest Dermatol. 2012 Jun;132(6):1627-35 [22402445.001]
  • [Cites] Gynecol Oncol. 2000 Dec;79(3):511-4 [11104631.001]
  • (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


45. |......... 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.
  • ResearchGate. author profiles.
  • NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Nat Rev Mol Cell Biol. 2004 Apr;5(4):271-81 [15071552.001]
  • [Cites] Circulation. 2005 Aug 2;112(5):636-42 [16061754.001]
  • [Cites] Cell Tissue Res. 1980;205(3):361-70 [7188887.001]
  • [Cites] J Mol Biol. 1982 Jun 5;157(4):671-9 [6288964.001]
  • [Cites] Science. 1983 Aug 19;221(4612):709-13 [6879170.001]
  • [Cites] Arch Oral Biol. 1984;29(4):275-86 [6586124.001]
  • [Cites] Proc Natl Acad Sci U S A. 1988 Apr;85(8):2613-7 [3282232.001]
  • [Cites] J Biol Chem. 1990 Feb 15;265(5):2603-12 [1689290.001]
  • [Cites] Proc Natl Acad Sci U S A. 1992 Jan 15;89(2):544-8 [1731325.001]
  • [Cites] J Cell Biol. 1992 Mar;116(5):1197-209 [1740472.001]
  • [Cites] Exp Cell Res. 1993 Aug;207(2):252-60 [8344378.001]
  • [Cites] J Cell Biol. 1993 Nov;123(3):691-705 [7693716.001]
  • [Cites] J Cell Biol. 1994 Nov;127(4):1049-60 [7525601.001]
  • [Cites] Curr Opin Cell Biol. 1996 Feb;8(1):56-65 [8791403.001]
  • [Cites] J Biol Chem. 1997 Aug 22;272(34):21495-503 [9261168.001]
  • [Cites] J Cell Biol. 1997 Nov 3;139(3):773-84 [9348293.001]
  • [Cites] J Cell Biol. 1998 Jun 1;141(5):1229-41 [9606214.001]
  • [Cites] Trends Biochem Sci. 1998 Jun;23(6):198-9 [9644970.001]
  • [Cites] Mol Biol Cell. 2003 May;14(5):1978-92 [12802069.001]
  • [Cites] J Am Coll Cardiol. 2003 Jul 16;42(2):319-27 [12875771.001]
  • [Cites] J Am Acad Dermatol. 1998 Sep;39(3):418-21 [9738775.001]
  • [Cites] Hum Mol Genet. 1999 Jan;8(1):143-8 [9887343.001]
  • [Cites] Nat Rev Mol Cell Biol. 2004 Jul;5(7):542-53 [15232572.001]
  • [Cites] Eur Heart J. 2005 Aug;26(16):1666-75 [15941723.001]
  • [Cites] Am J Hum Genet. 2005 Oct;77(4):653-60 [16175511.001]
  • [Cites] Exp Dermatol. 2006 Feb;15(2):101-9 [16433681.001]
  • [Cites] J Med Genet. 2006 Feb;43(2):e5 [16467215.001]
  • [Cites] J Clin Invest. 2006 Jul;116(7):2012-21 [16823493.001]
  • [Cites] Circ Res. 2006 Sep 15;99(6):646-55 [16917092.001]
  • [Cites] J Cell Sci. 2006 Dec 1;119(Pt 23):4974-85 [17105773.001]
  • [Cites] Circ Res. 2007 Sep 28;101(7):703-11 [17673670.001]
  • [Cites] J Membr Biol. 2007 Aug;218(1-3):65-71 [17585361.001]
  • [Cites] J Invest Dermatol. 2007 Dec;127(12):2713-25 [18007692.001]
  • [Cites] Nat Clin Pract Cardiovasc Med. 2008 May;5(5):258-67 [18382419.001]
  • [Cites] J Formos Med Assoc. 2008 Jul;107(7):548-58 [18632414.001]
  • [Cites] Dev Biol. 2009 Mar 1;327(1):83-96 [19101534.001]
  • [Cites] N Engl J Med. 2009 Mar 12;360(11):1075-84 [19279339.001]
  • [Cites] Br J Dermatol. 2009 Mar;160(3):692-7 [19016709.001]
  • [Cites] J Invest Dermatol. 1999 Dec;113(6):940-6 [10594734.001]
  • [Cites] Hum Mol Genet. 2000 Nov 1;9(18):2761-6 [11063735.001]
  • [Cites] J Invest Dermatol. 2002 Feb;118(2):232-8 [11841538.001]
  • [Cites] Hybrid Hybridomics. 2002 Feb;21(1):37-44 [11991815.001]
  • [Cites] Nat Struct Biol. 2002 Aug;9(8):612-20 [12101406.001]
  • [Cites] Am J Hum Genet. 2002 Nov;71(5):1200-6 [12373648.001]
  • [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
  • [Other-IDs] NLM/ NIHMS642818; NLM/ PMC4246507
  •  go-up   go-down


46. |......... 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


47. |......... 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.

  • ResearchGate. author profiles.
  • [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


48. |......... 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


49. |......... 3%  Baeta IG, Pereira AC, Guedes AC, Pereira LB: Do you know this syndrome? An Bras Dermatol; 2011 May-Jun;86(3):605-7
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] Do you know this syndrome?
  • Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome is a rare autosomal recessive skin disorder characterized by the association of diffuse, transgressive palmoplantar keratoderma with sclerodactyly, linear hyperkeratotic plaques generally located in flexures, and congenital ichthyosis.
  • [MeSH-major] Ichthyosis / pathology. Keratoderma, Palmoplantar / pathology
  • [MeSH-minor] Humans. Male. Syndrome. Young Adult

  • ExactAntigen/Labome. author profiles.
  • ResearchGate. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 21738991.001).
  • [ISSN] 1806-4841
  • [Journal-full-title] Anais brasileiros de dermatologia
  • [ISO-abbreviation] An Bras Dermatol
  • [Language] eng; por
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Brazil
  •  go-up   go-down


50. |......... 3%  Goldberg I, Sprecher E, Schwartz ME, Gaitini D: Comparative study of high-resolution multifrequency ultrasound of the plantar skin in patients with various types of hereditary palmoplantar keratoderma. Dermatology; 2013;226(4):365-70
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] Comparative study of high-resolution multifrequency ultrasound of the plantar skin in patients with various types of hereditary palmoplantar keratoderma.
  • We utilized this tool in pachyonychia congenita (PC) patients, who typically present with plantar hyperkeratosis and often severely debilitating pain, compared to patients with epidermolytic palmoplantar keratoderma (EPPK) and mal de Meleda (MDM).
  • METHODS: The study included a total of 16 patients, 7 with PC, 5 with EPPK and 4 with MDM, who underwent ultrasound examination of the plantar skin with high-resolution multifrequency ultrasound equipment.
  • RESULTS: Ultrasound scans performed over the proximal and distal plantar foot calluses in PC patients demonstrated hyperechoic dots and lines within the epidermis compatible with hyperkeratosis, engorged varicose veins in the dermis and an anechoic layer interposed between the epidermis and the dermis, corresponding to blister fluid below the calluses.
  • This finding may help in the diagnosis of PC and in partially explaining plantar pain as part of PC symptomatology.
  • [MeSH-major] Blister / ultrasonography. Keratoderma, Palmoplantar / ultrasonography. Pachyonychia Congenita / ultrasonography. Skin / ultrasonography
  • [MeSH-minor] Adolescent. Adult. Child. Child, Preschool. Female. Foot / blood supply. Foot / ultrasonography. Humans. Keratoderma, Palmoplantar, Epidermolytic / ultrasonography. Male. Middle Aged. Pain / etiology. Ultrasonography / methods. Varicose Veins / ultrasonography. Young Adult

  • Genetic Alliance. consumer health - Palmoplantar Keratoderma.
  • ResearchGate. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 24030314.001).
  • [ISSN] 1421-9832
  • [Journal-full-title] Dermatology (Basel, Switzerland)
  • [ISO-abbreviation] Dermatology (Basel)
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] Switzerland
  •  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
© 2015 RecentMedicalFindings


Connect with the


RMF


audience;




Post your ad here!