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Silvery hair with bronze-tan in a child: A case of Elejalde disease.
Indian J Dermatol Venereol Leprol ; 2007 Nov-Dec; 73(6): 417-9
Artículo en Inglés | IMSEAR | ID: sea-51977
ABSTRACT
A 5-year-old boy was admitted for severe neurological impairment including hypotonia and loss of consciousness without preceding febrile illness. On examination, he had silver colored hair and bronze-tan over photo-exposed body parts. He was born of consanguineous parents and three of his elder siblings, who died in early childhood, had similar colored hair. Complete blood count and serum immunoglobulin levels were within normal limits. Peripheral blood smear did not show any cytoplasmic granules in neutrophils. Cerebro-spinal fluid examination did not reveal any abnormality. Light microscopic examination of the hair revealed irregular clumping of the melanin throughout the shafts. The patient died on the second day following admission. A clinical diagnosis of Elejalde disease was made. The clinical and genetic overlapping of the three silvery-hair syndromes has been discussed.
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Texto completo: Disponible Índice: IMSEAR (Asia Sudoriental) Asunto principal: Trastornos de la Pigmentación / Inconsciencia / Humanos / Masculino / Preescolar / Consanguinidad / Síndromes Neurocutáneos / Cabello / Melaninas / Hipotonía Muscular Idioma: Inglés Revista: Indian J Dermatol Venereol Leprol Año: 2007 Tipo del documento: Artículo

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Texto completo: Disponible Índice: IMSEAR (Asia Sudoriental) Asunto principal: Trastornos de la Pigmentación / Inconsciencia / Humanos / Masculino / Preescolar / Consanguinidad / Síndromes Neurocutáneos / Cabello / Melaninas / Hipotonía Muscular Idioma: Inglés Revista: Indian J Dermatol Venereol Leprol Año: 2007 Tipo del documento: Artículo