| H00585 | |
| H number | H00585 |
| Name | Epidermolysis bullosa, hemidesmosomal |
| Description | Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The conditions in which the blister formation occurs at the level of hemidesmosome are classified as hemidesmosomal variants, that is subtype of epidermolysis bullosa simplex. |
| Category | Congenital malformation |
| Network | - |
| Gene | PLEC [HSA:5339] [KO:K10388] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: EC30 ICD-10: G71.0 Q81.0 MeSH: C567408 OMIM: 131950 226670 612138 |
| Reference | PMID:15708287 AUTHORS Uitto J, Richard G TITLE Progress in epidermolysis bullosa: from eponyms to molecular genetic classification. JOURNAL Clin Dermatol 23:33-40 (2005) DOI:10.1016/j.clindermatol.2004.09.015 PMID:20507384 AUTHORS Sawamura D, Nakano H, Matsuzaki Y TITLE Overview of epidermolysis bullosa. JOURNAL J Dermatol 37:214-9 (2010) DOI:10.1111/j.1346-8138.2009.00800.x PMID:11851880 (EBS-Ogna) AUTHORS Koss-Harnes D, Hoyheim B, Anton-Lamprecht I, Gjesti A, Jorgensen RS, Jahnsen FL, Olaisen B, Wiche G, Gedde-Dahl T Jr TITLE A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations. JOURNAL J Invest Dermatol 118:87-93 (2002) DOI:10.1046/j.0022-202x.2001.01591.x PMID:20016501 (EBS-MD) AUTHORS Bolling MC, Pas HH, de Visser M, Aronica E, Pfendner EG, van den Berg MP, Diercks GF, Suurmeijer AJ, Jonkman MF TITLE PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. JOURNAL J Invest Dermatol 130:1178-81 (2010) DOI:10.1038/jid.2009.390 PMID:15681471 (EBS-PA) AUTHORS Nakamura H, Sawamura D, Goto M, Nakamura H, McMillan JR, Park S, Kono S, Hasegawa S, Paku S, Nakamura T, Ogiso Y, Shimizu H TITLE Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1). JOURNAL J Mol Diagn 7:28-35 (2005) DOI:10.1016/S1525-1578(10)60005-0 |