KEGG   DISEASE: 栄養障害型表皮水疱症
エントリ  
H00587                                                             
名称    
栄養障害型表皮水疱症
  下位グループ
栄養障害型表皮水疱症 優性型 (DDEB)
栄養障害型表皮水疱症 劣性型 (RDEB)
そう痒性を伴う表皮水疱症 (DEB-Pr)
前脛骨性表皮水疱症
  上位グループ
表皮水疱症 [DS:H01737]
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
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
     H00587  栄養障害型表皮水疱症
病因遺伝子 
COL7A1 [HSA:1294] [KO:K16628]
リンク   
ICD-11: EC32
MeSH: D016108
OMIM: 131750 226600 604129 131850 132000
文献    
  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
文献    
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
文献    
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
文献    
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
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