| H00587 | |
| H number | H00587 |
| Name | Epidermolysis bullosa, dystrophica |
| Description | Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The dystrophic forms of epidermolysis bullosa, in which tissue separation occurs in the dermis, are inherited in either autosomal dominant or autosomal recessive pattern. In the most severe subtype of recessive dystrophic epidermolysis bullosa, there is esophageal stenosis and pseudosyndactyly. |
| Category | Congenital malformation |
| Network | - |
| Gene | COL7A1 [HSA:1294] [KO:K16628] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Beremagene geperpavec [DR:D12632] (COL7A1 mutation) |
| Comment | - |
| Other DBs | ICD-11: EC32 ICD-10: Q81.2 MeSH: D016108 OMIM: 131750 226600 604129 131850 132000 |
| Reference | PMID:20616732 AUTHORS Fine JD TITLE Inherited epidermolysis bullosa: recent basic and clinical advances. JOURNAL Curr Opin Pediatr 22:453-8 (2010) DOI:10.1097/MOP.0b013e32833bb74f PMID:16971478 (DDEB, RDEB) AUTHORS Varki R, Sadowski S, Uitto J, Pfendner E TITLE Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. JOURNAL J Med Genet 44:181-92 (2007) DOI:10.1136/jmg.2006.045302 PMID:16965329 (DEB-Pr) AUTHORS Drera B, Castiglia D, Zoppi N, Gardella R, Tadini G, Floriddia G, De Luca N, Pedicelli C, Barlati S, Zambruno G, Colombi M TITLE Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization. JOURNAL Clin Genet 70:339-47 (2006) DOI:10.1111/j.1399-0004.2006.00679.x PMID:10583163 (pretibial) AUTHORS Betts CM, Posteraro P, Costa AM, Varotti C, Schubert M, Bruckner-Tuderman L, Castiglia D TITLE Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing. JOURNAL Br J Dermatol 141:833-9 (1999) DOI:10.1046/j.1365-2133.1999.03155.x |