title: Sjögren-Larsson syndrome: phenotypic variability in two brothers with a neurocutaneous disorder.
abstract: Sjögren-Larsson syndrome (SLS) is a rare autosomal recessively inherited neurocutaneous disorder caused by mutations in the ALDH3A2 gene that encodes fatty aldehyde dehydrogenase, an enzyme that catalyzes the oxidation of fatty aldehyde to fatty acid. It is characterized by an unusual combination of cutaneous and neurologic signs and symptoms. The authors describe two brothers of consanguineous parents with SLS, one of whom was born from a dizygotic twin pregnancy (with an apparently normal sister), and they focus on the variability of the clinical findings of the syndrome even among siblings and twins.
authors.affiliation: Scientific Institute I.R.C.C.S. Eugenio Medea, La Nostra Famiglia, Unit of Neurorehabilitation I (Developmental Neurology and Functional Rehabilitation), Brindisi Research Centre, Piazza A. Di Summa, 72100 Brindisi, Italy.
authors.forename: Luciana
authors.initials: L
authors.lastname: Losito
authors.forename: Leonarda
authors.initials: L
authors.lastname: Gennaro
authors.forename: Marta
authors.initials: M
authors.lastname: De Rinaldis
authors.forename: Marilena
authors.initials: M
authors.lastname: Cacudi
authors.forename: Antonio
authors.initials: A
authors.lastname: Trabacca
mesh_terms: D000293:Adolescent; D000445:Aldehyde Oxidoreductases / Q000235:genetics; D006801:Humans; D008297:Male; D020752:Neurocutaneous Syndromes / Q000150:complications* / Q000235:genetics*; D010641:Phenotype; D016111:Sjogren-Larsson Syndrome / Q000209:etiology*; D014429:Twins, Dizygotic
chemical_list: D000445:Aldehyde Oxidoreductases; C038828:long-chain-aldehyde dehydrogenase