Familial Uncombable Hair Syndrome: Ultrastructural Hair Study and Response to Biotin

Pediatr Dermatol. 2007 May-Jun;24(3):E14-6. doi: 10.1111/j.1525-1470.2007.00385.x.

Abstract

We report a family affected to the fourth generation by uncombable hair syndrome. This syndrome is characterized by unruly, dry, blond hair with a tangled appearance. The family pedigree strongly supports the hypothesis of autosomal dominant inheritance; some members of the family had, apart from uncombable hair, minor signs of atopy and ectodermal dysplasia, such as abnormalities of the nails. The diagnosis was confirmed by means of extensive scanning electron microscopy. A trial with oral biotin 5 mg/day was started on two young patients with excellent results as regards the hair appearance, although scanning electron microscopy did not show structural changes in the hair. After a 2-year-period of follow-up, hair normality was maintained without biotin, while nail fragility still required biotin supplementation for control.

Publication types

  • Case Reports

MeSH terms

  • Biotin / therapeutic use*
  • Child, Preschool
  • Hair / drug effects
  • Hair / ultrastructure*
  • Hair Diseases / congenital
  • Hair Diseases / diagnosis*
  • Hair Diseases / drug therapy
  • Humans
  • Male
  • Microscopy, Electron, Scanning
  • Nail Diseases / complications
  • Nail Diseases / drug therapy
  • Vitamin B Complex / therapeutic use*

Substances

  • Vitamin B Complex
  • Biotin

Supplementary concepts

  • Uncombable hair syndrome