KEGG   DISEASE: 色素失調症
エントリ  
H00885                                                             
名称    
色素失調症;
伊藤白斑
概要    
Hypomelanosis of Ito is a neurocutaneous syndrome with hypopigmented whorls of skin along the Blaschko lines associated with other congenital defects of central nervous system, the eye, and skeletal system. The hypomelanotic lesions are present at birth or usually appear in the first year of life. Hypomelanosis of Ito includes many different states of chromosomal mosaicism.
カテゴリ  
皮膚疾患
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
   EC23  皮膚色素沈着の遺伝性疾患
    H00885  色素失調症
病因遺伝子 
chromosomal mosaicism
リンク   
ICD-11: EC23.2Y
MeSH: D010859
OMIM: 300337
文献    
  著者
Passeron T, Mantoux F, Ortonne JP
  タイトル
Genetic disorders of pigmentation.
  雑誌
Clin Dermatol 23:56-67 (2005)
DOI:10.1016/j.clindermatol.2004.09.013
文献    
  著者
Torchia D
  タイトル
Mosaic pigmentation disorders and associated syndromes.
  雑誌
J Dermatol 39:414-5 (2012)
DOI:10.1111/j.1346-8138.2011.01337.x
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