KEGG DISEASE: Ectodermal dysplasia/skin fragility syndrome

KEGG

DISEASE: Ectodermal dysplasia/skin fragility syndrome

Entry

H00644                      Disease

Name

Ectodermal dysplasia/skin fragility syndrome

Description

Ectodermal dysplasia/skin fragility syndrome is a very rare genodermatosis that develops skin fragility with tearing and blisters and congenital ectodermal dysplasia. Progressive keratosis of the palms and soles is always seen in the patients. This condition is caused by mutations in PKP1, a desmosomal plaque-associated protein.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   Genetically-determined epidermolysis bullosa
    EC30  Epidermolysis bullosa simplex
     H00644  Ectodermal dysplasia/skin fragility syndrome

Gene

PKP1 [HSA:5317] [KO:K10387]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Priolo M

Title

Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms.

Journal

Am J Med Genet A 149A:2003-13 (2009)
DOI:10.1002/ajmg.a.32804

Reference

Authors

McGrath JA, McMillan JR, Shemanko CS, Runswick SK, Leigh IM, Lane EB, Garrod DR, Eady RA

Title

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome.

Journal

Nat Genet 17:240-4 (1997)
DOI:10.1038/ng1097-240

Reference

Authors

Ersoy-Evans S, Erkin G, Fassihi H, Chan I, Paller AS, Surucu S, McGrath JA

Title

Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.

Journal

J Am Acad Dermatol 55:157-61 (2006)
DOI:10.1016/j.jaad.2005.10.002

LinkDB

» Japanese version

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