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Uncombable hair syndrome 1(UHS1)

MedGen UID:
1640179
Concept ID:
C4551573
Disease or Syndrome
Synonym: UHS1
 
Gene (location): PADI3 (1p36.13)
 
Monarch Initiative: MONDO:0020736
OMIM®: 191480

Definition

Uncombable hair syndrome is characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. This hair shaft disorder occurs in children and improves with age. The hair growth rate can range from slow to normal (summary by U. Basmanav et al., 2016). Genetic Heterogeneity of Uncombable Hair Syndrome See UHS2 (617251), caused by mutation in the TGM3 gene (600238) on chromosome 20p12, and UHS3 (617252), caused by mutation in the TCHH gene (190370) on chromosome 1q21. [from OMIM]

Clinical features

From HPO
Dry hair
MedGen UID:
75809
Concept ID:
C0277960
Finding
Hair that lacks the luster (shine or gleam) of normal hair.
Uncombable hair
MedGen UID:
348660
Concept ID:
C1860607
Finding
Hair that is disorderly, stands out from the scalp, and cannot be combed flat.
Pili canaliculi
MedGen UID:
348148
Concept ID:
C1860608
Finding
A characteristic triangular, kidney- or heat-shaped diameter of hair shafts with typical longitudinal canalicular deformation as observable by scanning electron microscopy.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Roberson JL, Farzaneh C, Neylan CJ, Judy R, Walker V, Damrauer SM, Levin MG, Maguire LH; Regeneron Genetics Center; Penn Medicine BioBank
Dis Colon Rectum 2024 Sep 1;67(9):1149-1157. Epub 2024 Jun 20 doi: 10.1097/DCR.0000000000003308. PMID: 38902823
Calvieri S, Rossi A
G Ital Dermatol Venereol 2014 Feb;149(1):1-13. PMID: 24566562
Shao L, Newell B
Pediatr Dev Pathol 2014 Jan-Feb;17(1):36-43. Epub 2013 Nov 19 doi: 10.2350/13-09-1375-OA.1. PMID: 24251687

Diagnosis

Breet H, Vos YJ, Dijkhuizen T, Voorbij-Vierstra CL, Bolling MC, van den Akker PC
Am J Med Genet A 2023 Mar;191(3):896-898. Epub 2022 Dec 21 doi: 10.1002/ajmg.a.63086. PMID: 36541401
Shao L, Newell B
Pediatr Dev Pathol 2014 Jan-Feb;17(1):36-43. Epub 2013 Nov 19 doi: 10.2350/13-09-1375-OA.1. PMID: 24251687
Rieubland C, de Viragh PA, Addor MC
Eur J Med Genet 2007 Jul-Aug;50(4):309-14. Epub 2007 Apr 11 doi: 10.1016/j.ejmg.2007.03.002. PMID: 17526443
Fritz TM, Trüeb RM
Pediatr Dermatol 2000 Jan-Feb;17(1):21-4. doi: 10.1046/j.1525-1470.2000.01704.x. PMID: 10720982

Therapy

Shelley WB, Shelley ED
J Am Acad Dermatol 1985 Jul;13(1):97-102. doi: 10.1016/s0190-9622(85)70150-8. PMID: 4031156

Prognosis

Roberson JL, Farzaneh C, Neylan CJ, Judy R, Walker V, Damrauer SM, Levin MG, Maguire LH; Regeneron Genetics Center; Penn Medicine BioBank
Dis Colon Rectum 2024 Sep 1;67(9):1149-1157. Epub 2024 Jun 20 doi: 10.1097/DCR.0000000000003308. PMID: 38902823
Lorand L, Iismaa SE
FASEB J 2019 Jan;33(1):3-12. doi: 10.1096/fj.201801544R. PMID: 30593123

Clinical prediction guides

Roberson JL, Farzaneh C, Neylan CJ, Judy R, Walker V, Damrauer SM, Levin MG, Maguire LH; Regeneron Genetics Center; Penn Medicine BioBank
Dis Colon Rectum 2024 Sep 1;67(9):1149-1157. Epub 2024 Jun 20 doi: 10.1097/DCR.0000000000003308. PMID: 38902823
Lorand L, Iismaa SE
FASEB J 2019 Jan;33(1):3-12. doi: 10.1096/fj.201801544R. PMID: 30593123
Schena D, Germi L, Zamperetti MR, Darra F, Giacopuzzi S, Girolomoni G
Pediatr Dermatol 2007 Sep-Oct;24(5):E73-5. doi: 10.1111/j.1525-1470.2007.00446.x. PMID: 17958786
Fritz TM, Trüeb RM
Pediatr Dermatol 2000 Jan-Feb;17(1):21-4. doi: 10.1046/j.1525-1470.2000.01704.x. PMID: 10720982
Shelley WB, Shelley ED
J Am Acad Dermatol 1985 Jul;13(1):97-102. doi: 10.1016/s0190-9622(85)70150-8. PMID: 4031156

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