KEGG   DISEASE: 家族性良性慢性天疱瘡
エントリ  
H00844                                                             

名称    
家族性良性慢性天疱瘡;
ヘイリー・ヘイリー病
概要    
Familial benign chronic pemphigus, also known as Hailey-Hailey disease, is a rare, autosomal dominant skin disorder. The clinical features are uncomfortable skin blisters and vegetative lesions caused by friction. Lesions generally begin between 20 and 40 years of age. In two third of all cases, positive family history is detected. Mutations in ATP2C1 that encodes a secretory pathway Ca2+/Mn2+-ATPase in the Golgi apparatus impair desmosomal keratinocyte adhesion in Hailey-Hailey disease.
カテゴリ  
先天奇形
階層分類  
ヒト疾患 [BR:jp08402]
 先天奇形
  皮膚の先天奇形
   H00844  家族性良性慢性天疱瘡
ICD-11 による疾患分類 [BR:jp08403]
 14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC20  Genetic disorders of keratinisation
    H00844  家族性良性慢性天疱瘡
特定疾患 (難病) [jp08407.html]
 H00844
病因遺伝子 
ATP2C1 [HSA:27032] [KO:K01537]
治療薬   
デキサメタゾンプロピオン酸エステル [DR:D01632]
ベタメタゾンジプロピオン酸エステル [DR:D01637]
リンク   
ICD-11: EC20.2
ICD-10: Q82.8
MeSH: D016506
OMIM: 169600
文献    
  著者
Dhitavat J, Fairclough RJ, Hovnanian A, Burge SM
  タイトル
Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey disease.
  雑誌
Br J Dermatol 150:821-8 (2004)
DOI:10.1111/j.1365-2133.2004.05904.x
文献    
  著者
Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein EH Jr
  タイトル
Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease.
  雑誌
Nat Genet 24:61-5 (2000)
DOI:10.1038/71701
文献    
  著者
Engin B, Kutlubay Z, Celik U, Serdaroglu S, Tuzun Y
  タイトル
Hailey-Hailey disease: A fold (intertriginous) dermatosis.
  雑誌
Clin Dermatol 33:452-5 (2015)
DOI:10.1016/j.clindermatol.2015.04.006
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