Hypotrichosis 8

Alternative Names

  • HYPT8
  • Hypotrichosis, Localized, Autosomal Recessive 3
  • LAH3
  • Woolly Hair, Autosomal Recessive 1, with or without Hypotrichosis
  • ARWH1
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

278150

Mode of Inheritance

Autosomal recessive

Gene Map Locus

13q14.2

Description

Hypotrichosis simplex refers to a group of hereditary isolated alopecias characterized by diffuse and progressive hair loss, usually beginning in early childhood. Localized autosomal recessive hypotrichosis (LAH) is characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after a few inches. Under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
278150.1United Arab EmiratesFemaleYesYes Woolly hair; Specific learning disabilityNM_001162498.3:c.565G>AHomozygousAutosomal, RecessiveSaleh et al. 2021 Affected cousin
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