KEGG   DISEASE: 新生児一過性表皮水疱症
エントリ  
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
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 14 皮膚の疾患
  皮膚の遺伝性及び発達性疾患
   遺伝性表皮水疱症
    EC32  栄養障害型表皮水疱症
     H00763  新生児一過性表皮水疱症
病因遺伝子 
COL7A1 [HSA:1294] [KO:K16628]
リンク   
ICD-11: EC32
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
文献    
  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
文献    
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
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