RESUMEN

We report a typical case of Sjogren-Larsson syndrome in a male patient, aged 20. The Sjogren-Larsson syndrome is a neurocutaneous, autosomal recessive and disabling condition, characterized by congenital ichthyosis, spastic paraplegia and mental retardation. It is caused by deficiency of the microsomal enzyme fatty aldehyde dehydrogenase. It has no cure, but most patients survive up to an adult age. Treatment should be multidisciplinary and dermatological therapy aims at relieving the persistent itching and ichthyosis.

Asunto(s)

Síndrome de Sjögren-Larsson/diagnóstico , Emolientes/uso terapéutico , Antagonistas de los Receptores Histamínicos/uso terapéutico , Humanos , Queratolíticos/uso terapéutico , Masculino , Síndrome de Sjögren-Larsson/tratamiento farmacológico , Síndrome de Sjögren-Larsson/patología , Adulto Joven