Villaseñor CP, Velázquez GE

Language: Spanish
References: 16
Page: 184-186
PDF size: 95.05 Kb.

ABSTRACT

Trichothiodystrophy is a neuroectodermal defect, autosomal recessive characterized by little and fragile hair in hairy skin, eyebrows and eyelashes. Under polarized microscopy, the hair shows a pattern characteristic of alternate clear and dark bands. The chemical analysis of the hair shows a low concentration of the cystine aminoacid that contains sulfur. In addition the patients present/display intellectual damage, diminished fertility and short stature. We presented/displayed the case of masculine patient of 2 years of age with this diagnosis.

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