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Uncombable hair syndrome 2(UHS2)

MedGen UID:
934616
•Concept ID:
C4310649
•
Disease or Syndrome
Synonym: UHS2
 
Gene (location): 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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

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: 36044230Free 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

Diagnosis

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: 36044230Free PMC Article
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

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

Prognosis

Transglutaminase diseases: from biochemistry to the bedside.
Lorand L, Iismaa SE
FASEB J 2019 Jan;33(1):3-12. doi: 10.1096/fj.201801544R. PMID: 30593123

Clinical prediction guides

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: 36044230Free PMC Article
Uncombable hair syndrome and beyond.
Alsabbagh MM
Acta Dermatovenerol Alp Pannonica Adriat 2022 Jun;31(2):49-64. PMID: 35751533
Transglutaminase diseases: from biochemistry to the bedside.
Lorand L, Iismaa SE
FASEB J 2019 Jan;33(1):3-12. doi: 10.1096/fj.201801544R. PMID: 30593123
Uncombable hair syndrome, mental retardation, single palmar crease and arched palate in a patient with neurofibromatosis type I.
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
Loose anagen hair syndrome mimicking the uncombable hair syndrome.
Boyer JD, Cobb MW, Sperling LC, Rushin JM
Cutis 1996 Feb;57(2):111-2. PMID: 8646855

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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