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

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.

journal_name

Pediatr Dermatol

journal_title

Pediatric dermatology

authors

Boccaletti V,Zendri E,Giordano G,Gnetti L,De Panfilis G

doi

10.1111/j.1525-1470.2007.00385.x

subject

Has Abstract

pub_date

2007-05-01 00:00:00

pages

E14-6

issue

3

eissn

0736-8046

issn

1525-1470

pii

PDE385

journal_volume

24

pub_type

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