title: Do you know this syndrome? Sjogren-Larsson syndrome.
abstract: 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.
authors.affiliation: Central Hospital of the Army, Rio de Janeiro, RJ, Brasil. mabenez@hotmail.com
authors.forename: Marcela Duarte Villela
authors.initials: MD
authors.lastname: Benez
authors.forename: Elisa
authors.initials: E
authors.lastname: Fontenelle
authors.forename: Brunela Bastos
authors.initials: BB
authors.lastname: Tozzi
authors.forename: Carolina
authors.initials: C
authors.lastname: Presotto
mesh_terms: D004643:Emollients / Q000627:therapeutic use; D006633:Histamine Antagonists / Q000627:therapeutic use; D006801:Humans; D007641:Keratolytic Agents / Q000627:therapeutic use; D008297:Male; D016111:Sjogren-Larsson Syndrome / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology; D055815:Young Adult
chemical_list: D004643:Emollients; D006633:Histamine Antagonists; D007641:Keratolytic Agents