Uncombable hair syndrome 2(UHS2)

MedGen UID:: 934616
•Concept ID:: C4310649
•: Disease or Syndrome

Synonym:	UHS2

Gene (location): Gene(s) directly associated with this condition or phenotype.	TGM3 (20p13)

Monarch Initiative:	MONDO:0014989
OMIM®:	617251

Definition

Uncombable hair syndrome (UHS) 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). For a general phenotypic description and a discussion of genetic heterogeneity of UHS, see UHS1 (191480). [from OMIM]

Clinical features

From HPO

Uncombable hair

MedGen UID:: 348660
•Concept ID:: C1860607
•: Finding

Hair that is disorderly, stands out from the scalp, and cannot be combed flat.

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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.

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Juvenile cataract

MedGen UID:: 137062
•Concept ID:: C0302254
•: Anatomical Abnormality

A type of cataract that is not apparent at birth but that arises in childhood or adolescence.

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Abnormality of the eye
- Juvenile cataract
Abnormality of the integument
- Pili canaliculi
- Uncombable hair

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVUncombable hair syndrome
- CROGVUncombable hair syndrome 1
- CROGVUncombable hair syndrome 2
- CROGVUncombable hair syndrome 3

Isolated genetic hair shaft abnormality
- Uncombable hair syndrome
  - Uncombable hair syndrome 2

Recent clinical studies

Etiology

Genome-Wide Association Study Identifies Genes for Hair Growth and Patterning are Associated With Pilonidal Disease.

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

Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.

Basmanav FB, Cesarato N, Kumar S, Borisov O, Kokordelis P, Ralser DJ, Wehner M, Axt D, Xiong X, Thiele H, Dolgin V, Gossmann Y, Fricker N, Dewenter MK, Weller K, Suri M, Reichenbach H, Oji V, Addor MC, Ramirez K, Stewart H, Garcia Bartels N, Weibel L, Wagner N, George S, Kilic A, Tantcheva-Poor I, Stewart A, Dikow N, Blaumeiser B, Medvecz M, Blume-Peytavi U, Farrant P, Grimalt R, Bertok S, Bradley L, Eskin-Schwartz M, Birk OS, Bygum A, Simon M, Krawitz P, Fischer C, Hamm H, Fritz G, Betz RC
JAMA Dermatol 2022 Nov 1;158(11):1245-1253. doi: 10.1001/jamadermatol.2022.2319. PMID: 36044230 Free PMC Article

Light microscopic hair abnormalities in children: retrospective review of 119 cases in a 10-year period.

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

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Diagnosis

Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.

Uncombable hair syndrome and beyond.

Alsabbagh MM
Acta Dermatovenerol Alp Pannonica Adriat 2022 Jun;31(2):49-64. PMID: 35751533

Familial Uncombable Hair Syndrome: Ultrastructural Hair Study and Response to Biotin.

Boccaletti V, Zendri E, Giordano G, Gnetti L, De Panfilis G
Pediatr Dermatol 2007 May-Jun;24(3):E14-6. doi: 10.1111/j.1525-1470.2007.00385.x. PMID: 17509110

A girl with loose anagen hair syndrome and uncombable, spun-glass hair.

Lee AJ, Maino KL, Cohen B, Sperling L
Pediatr Dermatol 2005 May-Jun;22(3):230-3. doi: 10.1111/j.1525-1470.2005.22310.x. PMID: 15916571

Uncombable hair (cheveux incoiffables, pili trianguli et canaliculi) syndrome: brief review and role of scanning electron microscopy in diagnosis.

Hicks J, Metry DW, Barrish J, Levy M
Ultrastruct Pathol 2001 Mar-Apr;25(2):99-103. PMID: 11407534

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Therapy

Familial Uncombable Hair Syndrome: Ultrastructural Hair Study and Response to Biotin.

Boccaletti V, Zendri E, Giordano G, Gnetti L, De Panfilis G
Pediatr Dermatol 2007 May-Jun;24(3):E14-6. doi: 10.1111/j.1525-1470.2007.00385.x. PMID: 17509110

See all (1)