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Anais Brasileiros de Dermatologia

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Abstract

BENEZ, Marcela Duarte Villela; FONTENELLE, Elisa; TOZZI, Brunela Bastos  and  PRESOTTO, Carolina. Do you know this syndrome?. An. Bras. Dermatol. [online]. 2010, vol.85, n.6, pp. 951-953. ISSN 0365-0596.  http://dx.doi.org/10.1590/S0365-05962010000600033.

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.

Keywords : Ichthyosis; Mental retardation; Paraplegia; Sjogren-Larsson Syndrome.

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