Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSPPEREIRA, Luciana BaptistaVALENTE, Neusa Yuriko SakaiROCHA, Vanessa Barreto2018-07-052018-07-052018ANAIS BRASILEIROS DE DERMATOLOGIA, v.93, n.1, p.135-137, 20180365-0596https://observatorio.fm.usp.br/handle/OPI/27135Trichothiodystrophy 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 trichothio-dystrophy 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.engopenAccessGeneticsIchthyosisTrichothiodystrophy Syndromesbrittle hairtrichothiodystrophyarticleCopyright SOC BRASILEIRA DERMATOLOGIA10.1590/abd1806-4841.20187727Dermatology1806-4841