H00763 | |
H number | H00763 |
Name | Transient bullous dermolysis of the newborn |
Description | 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. |
Category | Congenital malformation |
Network | - |
Gene | COL7A1 [HSA:1294] [KO:K16628] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: EC32 ICD-10: Q81.2 MeSH: C536979 OMIM: 131705 |
Reference | PMID:9856844 AUTHORS Hammami-Hauasli N, Raghunath M, Kuster W, Bruckner-Tuderman L TITLE Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations. JOURNAL J Invest Dermatol 111:1214-9 (1998) DOI:10.1046/j.1523-1747.1998.00394.x PMID:16225626 AUTHORS Fassihi H, Diba VC, Wessagowit V, Dopping-Hepenstal PJ, Jones CA, Burrows NP, McGrath JA TITLE Transient bullous dermolysis of the newborn in three generations. JOURNAL Br J Dermatol 153:1058-63 (2005) DOI:10.1111/j.1365-2133.2005.06873.x PMID:9406826 AUTHORS Christiano AM, Fine JD, Uitto J TITLE Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: a splice site mutation in the type VII collagen gene. JOURNAL J Invest Dermatol 109:811-4 (1997) DOI:10.1111/1523-1747.ep12341013 |