KEGG   DISEASE: Uncombable hair syndrome
Entry
H01796                      Disease                                
Name
Uncombable hair syndrome;
Spun glass hair syndrome;
Pili trianguli et canaliculi
Description
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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC21  Genetic defects of hair or hair growth
    H01796  Uncombable hair syndrome
Gene
(UHS1) PADI3 [HSA:51702] [KO:K01481]
(UHS2) TGM3 [HSA:7053] [KO:K05620]
(UHS3) TCHH [HSA:7062] [KO:K18626]
Other DBs
ICD-11: EC21.0
MeSH: C536939
OMIM: 191480 617251 617252
Reference
  Authors
Hicks J, Metry DW, Barrish J, Levy M
  Title
Uncombable hair (cheveux incoiffables, pili trianguli et canaliculi) syndrome: brief review and role of scanning electron microscopy in diagnosis.
  Journal
Ultrastruct Pathol 25:99-103 (2001)
DOI:10.1080/01913120117514
Reference
PMID:27866708 (PADI3 TGM3 TCHH)
  Authors
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
  Title
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.
  Journal
Am J Hum Genet 99:1292-1304 (2016)
DOI:10.1016/j.ajhg.2016.10.004
LinkDB

» Japanese version

DBGET integrated database retrieval system