| H00587 | |
| H番号 | H00587 |
| 名称 | 栄養障害型表皮水疱症 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | COL7A1 [HSA:1294] [KO:K16628] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: EC32 ICD-10: Q81.2 MeSH: D016108 OMIM: 131750 226600 604129 131850 132000 |
| 文献 | PMID:20616732 著者 Fine JD タイトル Inherited epidermolysis bullosa: recent basic and clinical advances. 雑誌 Curr Opin Pediatr 22:453-8 (2010) DOI:10.1097/MOP.0b013e32833bb74f PMID:16971478 (DDEB, RDEB) 著者 Varki R, Sadowski S, Uitto J, Pfendner E タイトル Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. 雑誌 J Med Genet 44:181-92 (2007) DOI:10.1136/jmg.2006.045302 PMID:16965329 (DEB-Pr) 著者 Drera B, Castiglia D, Zoppi N, Gardella R, Tadini G, Floriddia G, De Luca N, Pedicelli C, Barlati S, Zambruno G, Colombi M タイトル Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization. 雑誌 Clin Genet 70:339-47 (2006) DOI:10.1111/j.1399-0004.2006.00679.x PMID:10583163 (pretibial) 著者 Betts CM, Posteraro P, Costa AM, Varotti C, Schubert M, Bruckner-Tuderman L, Castiglia D タイトル Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing. 雑誌 Br J Dermatol 141:833-9 (1999) DOI:10.1046/j.1365-2133.1999.03155.x |