title: Sjögren-Larsson syndrome: biochemical defects and follow up in three cases.
abstract: Sjögren-Larsson syndrome is a rare disorder that consists of congenital ichthyosis and neurological symptoms due to an enzymatic defect of fatty aldehyde dehydrogenase in the fatty alcohol cycle. We report three cases of Sjögren-Larsson syndrome in which the primary biochemical defect was established in two patients (patient 2: 175 pmol/min/mg; patient 3: 103 pmol/min/mg protein enzimatic activity in fibroblasts in skin, while normal controls were 8,860 +/- 1,624, n: 22 ). A dietary program was proposed: reduced total fatty intake at 30% of total calories, n-3 and n-6 acids (canola oil) as well as unsaturated fatty acids (Milupan milk). Topical keratolytic agents were used too. Good clinical course was observed in one of the patients in whom dietary intervention was started in early infancy. In the other two patients, who started the therapy later (five and three years old), cutaneous symptoms were improved after treatment.
authors.affiliation: Department of Dermatology, University of Campinas, Faculdade de Ciências Médicas, Caixa postal 1170 Cep: 13083-970, São Paulo, Brazil. mauada@terra.com.br
authors.forename: Mariam Patrícia
authors.initials: MP
authors.lastname: Auada
authors.forename: Maria Beatriz Puzzi
authors.initials: MB
authors.lastname: Taube
authors.forename: Edgard F
authors.initials: EF
authors.lastname: Collares
authors.forename: Ana Maria Uthida
authors.initials: AM
authors.lastname: Tanaka
authors.forename: Maria Letícia
authors.initials: ML
authors.lastname: Cintra
mesh_terms: D000445:Aldehyde Oxidoreductases / Q000235:genetics / Q000378:metabolism*; D002675:Child, Preschool; D004035:Diet Therapy; D005192:Family Health; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D016111:Sjogren-Larsson Syndrome / Q000178:diet therapy / Q000201:enzymology* / Q000235:genetics; D012867:Skin / Q000201:enzymology*
chemical_list: D000445:Aldehyde Oxidoreductases; C038828:long-chain-aldehyde dehydrogenase