H01737 | |
H number | H01737 |
Name | Epidermolysis bullosa |
Description | Inherited epidermolysis bullosa (EB) is a diverse group of disorders that encompass dozens of clinically and genotypically distinct diseases. It is characterized by mechanically fragile skin that readily blister. Most of the more severe subtypes are associated with clinically significant extracutaneous complications. Some subtypes may lead to death, even in early infancy. There are four major types of EB: EB simplex, junctional EB, dystrophic EB, and Kindler syndrome. |
Category | Congenital malformation |
Network | - |
Gene | (EBLA) DSP [HSA:1832] [KO:K10381] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: EC3Z ICD-10: Q81 MeSH: D004820 OMIM: 609638 |
Reference | PMID:20536471 AUTHORS Fine JD TITLE Inherited epidermolysis bullosa: past, present, and future. JOURNAL Ann N Y Acad Sci 1194:213-22 (2010) DOI:10.1111/j.1749-6632.2010.05463.x PMID:24007552 AUTHORS Tampoia M, Bonamonte D, Filoni A, Garofalo L, Morgese MG, Brunetti L, Di Giorgio C, Annicchiarico G TITLE Prevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosa. JOURNAL Orphanet J Rare Dis 8:132 (2013) DOI:10.1186/1750-1172-8-132 PMID:20302578 (DSP) AUTHORS Bolling MC, Veenstra MJ, Jonkman MF, Diercks GF, Curry CJ, Fisher J, Pas HH, Bruckner AL TITLE Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart. JOURNAL Br J Dermatol 162:1388-94 (2010) DOI:10.1111/j.1365-2133.2010.09668.x |