Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs
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Citações na Scopus
1
Tipo de produção
article
Data de publicação
2018
Título da Revista
ISSN da Revista
Título do Volume
Editora
SOC BRASILEIRA DERMATOLOGIA
Autores
Citação
ANAIS BRASILEIROS DE DERMATOLOGIA, v.93, n.1, p.135-137, 2018
Resumo
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 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.
Palavras-chave
Genetics, Ichthyosis, Trichothiodystrophy Syndromes
Referências
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