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