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Uncombable hair syndrome(UHS1)

MedGen UID:
96596
Concept ID:
C0432347
Disease or Syndrome
Synonyms: Cheveux incoiffables; Pili trianguli et Canaliculi; Spun glass hair; UHS1; Unmanageable hair syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Uncombable hair syndrome (254230001); Spun glass hair (254230001); Pili trianguli et canaliculi (254230001)
 
Gene (location): PADI3 (1p36.13)
OMIM®: 191480
Orphanet: ORPHA1410

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 GTR]

Additional descriptions

From OMIM
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.  http://www.omim.org/entry/191480
From GHR
Uncombable hair syndrome is a condition that is characterized by dry, frizzy hair that cannot be combed flat. This condition develops in childhood, often between infancy and age 3, but can appear as late as age 12. Affected children have light-colored hair, described as blond or silvery with a glistening sheen. The hair does not grow downward but out from the scalp in multiple directions. Despite its appearance, the hair is not fragile or brittle, and it grows at a normal or slightly slower rate. Only scalp hair is affected in uncombable hair syndrome.For unknown reasons, this condition usually improves over time. By adolescence individuals with uncombable hair syndrome have hair that lies flat and has normal or nearly normal texture.  https://ghr.nlm.nih.gov/condition/uncombable-hair-syndrome

Clinical features

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
Uncombable hair.

Recent clinical studies

Etiology

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

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
Ahmed I, Joseph R, Olagundoye V, Shahid J
J Obstet Gynaecol 2009 Feb;29(2):159-60. doi: 10.1080/01443610802646868. PMID: 19274561
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
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
Laungani AG, McDonnell J, Bergfeld WF, McMahon JT
Cutis 2007 Apr;79(4):272, 291-2. PMID: 17500372

Therapy

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
Shelley WB, Shelley ED
J Am Acad Dermatol 1985 Jul;13(1):97-102. PMID: 4031156

Clinical prediction guides

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
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. PMID: 10720982
Boyer JD, Cobb MW, Sperling LC, Rushin JM
Cutis 1996 Feb;57(2):111-2. PMID: 8646855
Zanca A, Zanca A
Int J Dermatol 1993 Oct;32(10):707. PMID: 8225707

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