Sjögren-Larsson syndrome (SLS, MIM 270200) is a rare autosomal recessive neurocutaneous disorder due to a deficiency of the fatty aldehyde dehydrogenase and defined by a characteristic triad of symptoms including congenital ichthyosis, spastic di- or quadriplegia and mental retardation. Recently, genetic studies have subsequently shown linkage of the syndrome to chromosome 17p in Swedish pedigrees, confirmation of linkage to the same locus in non-Swedish pedigrees, and finally cloning of the gene as well as detection of mutations in affected probands. Furthermore, SLS may well be soon added to the list of peroxisomal disorders. The purpose of this paper is to provide an up-to-date synopsis of SLS and to outline specific aspects of this syndrome that are still unclear.