Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs.

Abstract:

:Trichothiodystrophy refers to a heterogeneous group of rare genetic diseases that affects neuroectodermal-derived tissues with multisystem involvement. The hallmark of these syndromes is the deficiency of sulfur in hair matrix proteins, leading to short and brittle hair. Few cases of this rare disorder have been published. The authors report a case of trichothiodystrophy in a male infant with ichthyosis, photosensitivity, spastic paraparesis, short stature, and neurologic and psychomotor retardation. Diagnosis was based on clinical and microscopic features of hair samples.

journal_name

An Bras Dermatol

authors

Pereira LB,Rocha VB,Valente NYS

doi

10.1590/abd1806-4841.20187727

subject

Has Abstract

pub_date

2018-01-01 00:00:00

pages

135-137

issue

1

eissn

0365-0596

issn

1806-4841

pii

S0365-0596(20)30380-9

journal_volume

93

pub_type

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