KEGG   DISEASE: 櫛でとかせない頭髪症候群
エントリ  
H01796                                                             
名称    
櫛でとかせない頭髪症候群
概要    
Uncombable hair syndrome (UHS) is a rare anomaly of the hair shaft characterized by dry, frizzy, spangly, and often fair hair that is resistant to being combed flat. Both simplex and familial UHS-affected cases with autosomal dominant as well as recessive inheritance have been described. Recently, the identification of causative mutations were reported. No proven therapy exists. In the typical case, improvement may occur over time and spontaneous regression has been reported. Scanning electron microscopy of hair samples provides definitive evidence for diagnosis of clinically suspected UHS and eliminates other hair abnormalities from the differential diagnosis.
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
   EC21  毛髪または発毛の遺伝子異常
    H01796  櫛でとかせない頭髪症候群
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06545  コーニファイドエンベロープ形成
   H01796  櫛でとかせない頭髪症候群
パスウェイ 
hsa04382 Cornified envelope formation   
ネットワーク
nt06545 Cornified envelope formation
病因遺伝子 
(UHS1) PADI3 [HSA:51702] [KO:K01481]
(UHS2) TGM3 [HSA:7053] [KO:K05620]
(UHS3) TCHH [HSA:7062] [KO:K18626]
リンク   
ICD-11: EC21.0
MeSH: C536939
OMIM: 191480 617251 617252
文献    
  著者
Hicks J, Metry DW, Barrish J, Levy M
  タイトル
Uncombable hair (cheveux incoiffables, pili trianguli et canaliculi) syndrome: brief review and role of scanning electron microscopy in diagnosis.
  雑誌
Ultrastruct Pathol 25:99-103 (2001)
DOI:10.1080/01913120117514
文献    
PMID:27866708 (PADI3 TGM3 TCHH)
  著者
U Basmanav FB, Cau L, Tafazzoli A, Mechin MC, Wolf S, Romano MT, Valentin F, Wiegmann H, Huchenq A, Kandil R, Garcia Bartels N, Kilic A, George S, Ralser DJ, Bergner S, Ferguson DJ, Oprisoreanu AM, Wehner M, Thiele H, Altmuller J, Nurnberg P, Swan D, Houniet D, Buchner A, Weibel L, Wagner N, Grimalt R, Bygum A, Serre G, Blume-Peytavi U, Sprecher E, Schoch S, Oji V, Hamm H, Farrant P, Simon M, Betz RC
  タイトル
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.
  雑誌
Am J Hum Genet 99:1292-1304 (2016)
DOI:10.1016/j.ajhg.2016.10.004
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