KEGG   DISEASE: 表皮剥離性掌蹠角化症
エントリ  
H00722                                                             
名称    
表皮剥離性掌蹠角化症
  上位グループ
掌蹠角化症 [DS:H01673]
概要    
Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant dermatosis that presents within the first year of life. Patients have diffuse thickening of the skin on the palms and soles with yellow discoloration and erythematous margins. Mutations are identified in KRT9. Mild form of EPPK is linked to KRT1.
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
   EC20  遺伝性角化症
    H00722  表皮剥離性掌蹠角化症
病因遺伝子 
(EPPK1) KRT9 [HSA:3857] [KO:K07604]
(EPPK2) KRT1 [HSA:3848] [KO:K07605]
リンク   
ICD-11: EC20.30
ICD-10: Q82.8
MeSH: D053546
OMIM: 144200 620411
文献    
PMID:19341430
  著者
Braun-Falco M
  タイトル
Hereditary palmoplantar keratodermas.
  雑誌
J Dtsch Dermatol Ges 7:971-84; quiz 984-5 (2009)
DOI:10.1111/j.1610-0387.2009.07058.x
文献    
PMID:12688839
  著者
Smith F
  タイトル
The molecular genetics of keratin disorders.
  雑誌
Am J Clin Dermatol 4:347-64 (2003)
DOI:10.2165/00128071-200304050-00005
文献    
PMID:15538081
  著者
Sehgal VN, Sardana K, Sharma S, Raut D
  タイトル
Hereditary palmoplantar (epidermolytic) keratoderma: illustration through a familial report.
  雑誌
Skinmed 3:323-30; quiz 331-2 (2004)
DOI:10.1111/j.1540-9740.2004.03243.x
文献    
PMID:7512862 (EPPK1)
  著者
Reis A, Hennies HC, Langbein L, Digweed M, Mischke D, Drechsler M, Schrock E, Royer-Pokora B, Franke WW, Sperling K, et al.
  タイトル
Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).
  雑誌
Nat Genet 6:174-9 (1994)
DOI:10.1038/ng0294-174
文献    
PMID:11286630 (EPPK2)
  著者
Hatsell SJ, Eady RA, Wennerstrand L, Dopping-Hepenstal P, Leigh IM, Munro C, Kelsell DP
  タイトル
Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds.
  雑誌
J Invest Dermatol 116:606-9 (2001)
DOI:10.1046/j.1523-1747.2001.13041234.x
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