Sjögren-Larsson syndrome: a case report and literature review.

Alió, Alessandra B; Bird, Lynne M; McClellan, Scott D; Cunningham, Bari B

Alió, Alessandra B; Bird, Lynne M; McClellan, Scott D; Cunningham, Bari B.

Afiliación

Alió AB; Division of Pediatric and Adolescent Dermatology, Department of Pediatrics, University of California, San Diego, USA.

Cutis ; 78(1): 61-5, 2006 Jul.

Article en En | MEDLINE | ID: mdl-16903323

RESUMEN

Sjögren-Larsson syndrome (SLS) is an autosomal recessive neurocutaneous disorder most commonly seen in the Scandinavian population and characterized by congenital ichthyosis, mental retardation, and spastic diplegia or quadriplegia. We report a case of SLS in an 11-month-old girl of Lebanese and Mexican-Syrian ancestry who presented with ichthyosis, developmental delay, and spasticity. Results of an enzymatic assay and genomic DNA testing in cultured skin fibroblasts confirmed a homozygous C237Y mutation. These findings support the rich diversity of mutations associated with this syndrome.

Asunto(s)

Síndrome de Sjögren-Larsson/diagnóstico; Síndrome de Sjögren-Larsson/genética; Biopsia; Diagnóstico Diferencial; Femenino; Humanos; Lactante; Mutación

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Sjögren-Larsson Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Infant Idioma: En Revista: Cutis Año: 2006 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos

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