Article
[Trichothiodystrophy: progresssive manifestations].
Annales de dermatologie et de venereologie - 1 Oct 1999
Foulc P, Jumbou O, David A, Sarasin A, Stalder J F
Abstract excerpt
INTRODUCTION: Trichothiodystrophy is an autosomal recessive genodermatosis associating congenital dysplasia of the hair and neuroectodermal defects. Clinical expression is variable, although abnormalities are generally noted from birth. We report trichothiodystrophy in two brothers with the same phenotype who presented unusual progressive manifestations. OBSERVATIONS: Case 1: A six-year-old boy was seen for...
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