| H00585 | |
| H番号 | H00585 |
| 名称 | ヘミデスモソーム型表皮水疱症 |
| 概要 | Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The conditions in which the blister formation occurs at the level of hemidesmosome are classified as hemidesmosomal variants, that is subtype of epidermolysis bullosa simplex. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | PLEC [HSA:5339] [KO:K10388] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: EC30 ICD-10: G71.0 Q81.0 MeSH: C567408 OMIM: 131950 226670 612138 |
| 文献 | PMID:15708287 著者 Uitto J, Richard G タイトル Progress in epidermolysis bullosa: from eponyms to molecular genetic classification. 雑誌 Clin Dermatol 23:33-40 (2005) DOI:10.1016/j.clindermatol.2004.09.015 PMID:20507384 著者 Sawamura D, Nakano H, Matsuzaki Y タイトル Overview of epidermolysis bullosa. 雑誌 J Dermatol 37:214-9 (2010) DOI:10.1111/j.1346-8138.2009.00800.x PMID:11851880 (EBS-Ogna) 著者 Koss-Harnes D, Hoyheim B, Anton-Lamprecht I, Gjesti A, Jorgensen RS, Jahnsen FL, Olaisen B, Wiche G, Gedde-Dahl T Jr タイトル A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations. 雑誌 J Invest Dermatol 118:87-93 (2002) DOI:10.1046/j.0022-202x.2001.01591.x PMID:20016501 (EBS-MD) 著者 Bolling MC, Pas HH, de Visser M, Aronica E, Pfendner EG, van den Berg MP, Diercks GF, Suurmeijer AJ, Jonkman MF タイトル PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. 雑誌 J Invest Dermatol 130:1178-81 (2010) DOI:10.1038/jid.2009.390 PMID:15681471 (EBS-PA) 著者 Nakamura H, Sawamura D, Goto M, Nakamura H, McMillan JR, Park S, Kono S, Hasegawa S, Paku S, Nakamura T, Ogiso Y, Shimizu H タイトル Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1). 雑誌 J Mol Diagn 7:28-35 (2005) DOI:10.1016/S1525-1578(10)60005-0 |