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
Artículo
en Inglés
| LILACS
| ID: biblio-887143
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.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Anomalías Múltiples
/
Síndromes de Tricotiodistrofia
/
Ictiosis
/
Discapacidad Intelectual
Tipo de estudio:
Factores de riesgo
Límite:
Child, preschool
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
An. bras. dermatol
Asunto de la revista:
Dermatologia
Año:
2018
Tipo del documento:
Artículo
País de afiliación:
Brasil
Institución/País de afiliación:
Universidade Federal de Minas Gerais/BR
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