| H00644 | |
| H number | H00644 |
| 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 |
| Network | - |
| Gene | PKP1 [HSA:5317] [KO:K10387] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: EC30 ICD-10: Q81.0 MeSH: C536183 OMIM: 604536 |
| Reference | PMID:19504607 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 PMID:9326952 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 PMID:16781314 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 |