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- Marcela Duarte Villela Benez, Elisa Fontenelle, Brunela Bastos Tozzi, and Carolina Presotto.
- Central Hospital of the Army, Rio de Janeiro, RJ, Brasil. mabenez@hotmail.com
- An Bras Dermatol. 2010 Nov 1; 85 (6): 951-3.
AbstractWe 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.
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