RESUMO
Relatamos um caso típico, em um paciente masculino de 20 anos, da síndrome de Sjögren-Larsson, que é uma doença neurocutânea, autossômica recessiva e incapacitante, caracterizada por ictiose congênita, plegia espástica e retardo mental. É causada pela deficiência da enzima aldeído graxo desidrogenase. Não tem cura, porém a maioria dos pacientes sobrevive até a idade adulta. O tratamento deve ser multidisciplinar e a terapia dermatológica tem o objetivo de aliviar o prurido persistente e a ictiose.
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.
Assuntos
Feminino , Humanos , Pessoa de Meia-Idade , Hiperpigmentação/patologia , Mucosa Bucal/patologia , Doenças da Unha/patologia , Diagnóstico Diferencial , SíndromeRESUMO
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.
