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Uncombable hair

MedGen UID:
348660
Concept ID:
C1860607
Finding
HPO: HP:0030056

Definition

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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUncombable hair

Conditions with this feature

Rapp-Hodgkin ectodermal dysplasia syndrome
MedGen UID:
315656
Concept ID:
C1785148
Disease or Syndrome
The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.
Hypotrichosis 4
MedGen UID:
413053
Concept ID:
C2750815
Disease or Syndrome
Hypotrichosis-4 (HYPT4), also known as Marie Unna hereditary hypotrichosis-1 (MUHH1), is an autosomal dominant form of hair loss characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth. Coarse, wiry hair begins to grow during childhood. Around puberty, progressive hair loss occurs in the affected patients. Although the disorder has the potential to affect all hair shafts, progressive and patterned alopecia of the scalp is the main manifestation of the disorder (summary by Mansur et al., 2010). For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see 605389. Genetic Heterogeneity of Marie Unna Hereditary Hypotrichosis See also MUHH2 (HYPT5; 612841), caused by heterozygous mutation in the EPS8L3 gene (614989) on chromosome 1p13.
Trichohepatoenteric syndrome 2
MedGen UID:
482919
Concept ID:
C3281289
Disease or Syndrome
Trichohepatoenteric syndrome (THES), generally considered to be a neonatal enteropathy, is characterized by intractable diarrhea (seen in almost all affected children), woolly hair (seen in all), intrauterine growth restriction, facial dysmorphism, and short stature. Additional findings include poorly characterized immunodeficiency, recurrent infections, skin abnormalities, and liver disease. Mild intellectual disability (ID) is seen in about 50% of affected individuals. Less common findings include congenital heart defects and platelet anomalies. To date 52 affected individuals have been reported.
Uncombable hair syndrome 3
MedGen UID:
934615
Concept ID:
C4310648
Disease or Syndrome
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).
Uncombable hair syndrome 2
MedGen UID:
934616
Concept ID:
C4310649
Disease or Syndrome
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).
Uncombable hair syndrome 1
MedGen UID:
1640179
Concept ID:
C4551573
Disease or Syndrome
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.

Professional guidelines

PubMed

Itin PH, Fistarol SK
Dermatology 2005;211(1):63-71. doi: 10.1159/000085582. PMID: 15983439

Recent clinical studies

Etiology

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
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
Smith VV, Anderson G, Malone M, Sebire NJ
J Clin Pathol 2005 Dec;58(12):1294-8. doi: 10.1136/jcp.2005.027581. PMID: 16311350Free PMC Article

Diagnosis

Alsabbagh MM
Acta Dermatovenerol Alp Pannonica Adriat 2022 Jun;31(2):49-64. PMID: 35751533
Scheuerle AE
Am J Med Genet A 2019 Aug;179(8):1415-1419. Epub 2019 May 22 doi: 10.1002/ajmg.a.61205. PMID: 31119873
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
Hicks J, Metry DW, Barrish J, Levy M
Ultrastruct Pathol 2001 Mar-Apr;25(2):99-103. PMID: 11407534
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

Coerdt KM, Goggins CA, Khachemoune A
Altern Ther Health Med 2021 Jul;27(4):41-49. PMID: 33245705
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. doi: 10.1016/s0190-9622(85)70150-8. PMID: 4031156

Prognosis

Lorand L, Iismaa SE
FASEB J 2019 Jan;33(1):3-12. doi: 10.1096/fj.201801544R. PMID: 30593123
Chan I, McGrath JA, Kivirikko S
Clin Exp Dermatol 2005 Mar;30(2):183-6. doi: 10.1111/j.1365-2230.2004.01715.x. PMID: 15725251

Clinical prediction guides

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
Alsabbagh MM
Acta Dermatovenerol Alp Pannonica Adriat 2022 Jun;31(2):49-64. PMID: 35751533
Lorand L, Iismaa SE
FASEB J 2019 Jan;33(1):3-12. doi: 10.1096/fj.201801544R. PMID: 30593123
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
Hebert AA, Charrow J, Esterly NB, Fretzin DF
Am J Med Genet 1987 Sep;28(1):185-93. doi: 10.1002/ajmg.1320280126. PMID: 3314509

Recent systematic reviews

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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