| H00763 | |
| H番号 | H00763 |
| 名称 | 新生児一過性表皮水疱症 |
| 概要 | Transient bullous dermolysis of the newborn is a rare disorder in which subepidermal blistering presents at birth. Tissue separation occurs below the lamina densa, due to abnormal intraepidermal accumulation of type VII collagen. The disease usually regresses during early life, as type VII collagen secretion gradually recovers. |
| 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: C536979 OMIM: 131705 |
| 文献 | PMID:9856844 著者 Hammami-Hauasli N, Raghunath M, Kuster W, Bruckner-Tuderman L タイトル Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations. 雑誌 J Invest Dermatol 111:1214-9 (1998) DOI:10.1046/j.1523-1747.1998.00394.x PMID:16225626 著者 Fassihi H, Diba VC, Wessagowit V, Dopping-Hepenstal PJ, Jones CA, Burrows NP, McGrath JA タイトル Transient bullous dermolysis of the newborn in three generations. 雑誌 Br J Dermatol 153:1058-63 (2005) DOI:10.1111/j.1365-2133.2005.06873.x PMID:9406826 著者 Christiano AM, Fine JD, Uitto J タイトル Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: a splice site mutation in the type VII collagen gene. 雑誌 J Invest Dermatol 109:811-4 (1997) DOI:10.1111/1523-1747.ep12341013 |