| H01737 | |
| H番号 | H01737 |
| 名称 | 表皮水疱症 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (EBLA) DSP [HSA:1832] [KO:K10381] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | デキサメタゾン [DR:D00292] ベタメタゾンリン酸エステルナトリウム [DR:D00972] ベタメタゾン [DR:D00244] プレドニゾロン [DR:D00472] メチルプレドニゾロン [DR:D00407] |
| コメント | - |
| リンク | ICD-11: EC3Z ICD-10: Q81 MeSH: D004820 OMIM: 609638 |
| 文献 | PMID:20536471 著者 Fine JD タイトル Inherited epidermolysis bullosa: past, present, and future. 雑誌 Ann N Y Acad Sci 1194:213-22 (2010) DOI:10.1111/j.1749-6632.2010.05463.x PMID:24007552 著者 Tampoia M, Bonamonte D, Filoni A, Garofalo L, Morgese MG, Brunetti L, Di Giorgio C, Annicchiarico G タイトル Prevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosa. 雑誌 Orphanet J Rare Dis 8:132 (2013) DOI:10.1186/1750-1172-8-132 PMID:20302578 (DSP) 著者 Bolling MC, Veenstra MJ, Jonkman MF, Diercks GF, Curry CJ, Fisher J, Pas HH, Bruckner AL タイトル Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart. 雑誌 Br J Dermatol 162:1388-94 (2010) DOI:10.1111/j.1365-2133.2010.09668.x |