Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs
An. bras. dermatol
; 93(1): 135-137, Jan.-Feb. 2018. graf
Article
em En
| LILACS
| ID: biblio-887143
Biblioteca responsável:
BR1.1
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Anormalidades Múltiplas
/
Síndromes de Tricotiodistrofia
/
Ictiose
/
Deficiência Intelectual
Tipo de estudo:
Risk_factors_studies
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
An. bras. dermatol
Assunto da revista:
DERMATOLOGIA
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Brasil
País de publicação:
Brasil