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Uncombable hair syndrome(UHS)

MedGen UID:
96596
•Concept ID:
C0432347
•
Disease or Syndrome
Synonyms: Cheveux incoiffables; Spun glass hair
SNOMED CT: Uncombable hair syndrome (254230001); Spun glass hair (254230001); Pili trianguli et canaliculi (254230001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Related genes: PADI3, TCHH, TGM3
 
Monarch Initiative: MONDO:0008621
OMIM®: 191480
Orphanet: ORPHA1410

Definition

Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Uncombable hair syndrome in Orphanet.

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
Alopecia in genetic diseases.
Calvieri S, Rossi A
G Ital Dermatol Venereol 2014 Feb;149(1):1-13. PMID: 24566562
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
Hair cross-sectioning in uncombable hair syndrome: An epoxy embedding technique.
Reis J, Brandão JR, Rodrigues A, Coelho A, Machado S
J Cutan Pathol 2020 Nov;47(11):1073-1075. Epub 2020 Sep 14 doi: 10.1111/cup.13826. PMID: 32716598
Uncombable hair syndrome.
Calderon P, Otberg N, Shapiro J
J Am Acad Dermatol 2009 Sep;61(3):512-5. doi: 10.1016/j.jaad.2009.01.006. PMID: 19700017
Uncombable-hair syndrome.
Matis WL, Baden H, Green R, Boiko S, Lucky AW, Hornstein L, Ashraf M, Hood AF
Pediatr Dermatol 1987 Nov;4(3):215-9. doi: 10.1111/j.1525-1470.1987.tb00781.x. PMID: 3422852

Therapy

Vitamins A, B, C, and D: A Short Review for the Dermatologist.
Coerdt KM, Goggins CA, Khachemoune A
Altern Ther Health Med 2021 Jul;27(4):41-49. PMID: 33245705
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
Uncombable hair syndrome: observations on response to biotin and occurrence in siblings with ectodermal dysplasia.
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

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
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.
Ü Basmanav FB, Cau L, Tafazzoli A, Méchin 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 DJP, Oprisoreanu AM, Wehner M, Thiele H, Altmüller J, Nürnberg P, Swan D, Houniet D, Büchner 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
Am J Hum Genet 2016 Dec 1;99(6):1292-1304. Epub 2016 Nov 17 doi: 10.1016/j.ajhg.2016.10.004. PMID: 27866708Free PMC Article
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

Recent systematic reviews

Hypothesis: Folklore perpetuated expression of moon-associated bipolar disorders in anecdotally exaggerated werewolf guise.
Erren TC, Lewis P
Med Hypotheses 2019 Jan;122:129-133. Epub 2018 Nov 15 doi: 10.1016/j.mehy.2018.11.004. PMID: 30593396

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