Authors
Citation
C. Peter et al., TRICHOTHIODYSTROPHY WITHOUT ASSOCIATED NEUROECTODERMAL DEFECTS, British journal of dermatology, 139(1), 1998, pp. 137-140
Citations number
17
Categorie Soggetti
Dermatology & Venereal Diseases
Journal title
ISSN journal
00070963
Volume
139
Issue
1
Year of publication
1998
Pages
137 - 140
Database
ISI
SICI code
0007-0963(1998)139:1<137:TWAND>2.0.ZU;2-6
Abstract
Trichothiodystrophy leading to generalized trichorrhexis nodosa-like h
air changes with abnormal hair breakage is described in a 4-year-old g
irl. A marked deficiency of sulphur and the sulphur-containing amino a
cid, cystine, was detected in the biochemical analysis of the hair. Fu
rther investigation of the hair showed the morphological criteria of t
richothiodystrophy. Commonly related symptoms, such as mental retardat
ion, ichthyosis and increased sensitivity to sunlight, were not presen
t in our patient.