title: Ichthyosis: the skin manifestation of multiple sulfatase deficiency.
abstract: Juvenile sulfatidosis (Austin type) or multiple sulfatase deficiency is an extremely rare autosomal recessive disorder affecting the activity of many sulfatases: arylsulfatase A, several mucopolysaccharide sulfatases, and steroid sulfatase. Certain aspects of the clinical phenotype can be attributed mainly to a deficiency of one specific sulfatase. Most patients develop metachromatic leukodystrophy caused by arylsulfatase A deficiency, dysostosis multiplex by mucopolysaccharide sulfatase deficiency, and ichthyotic skin by steroid sulfatase deficiency. We describe a 7-year-old boy with developmental delay from 7 months of age, progressive spastic quadriparesis, and coarse facial features. By 27 months of age, an ichthyotic rash had developed on the limbs, trunk, and scalp. A skin biopsy specimen revealed hyperkeratosis with a normal granular layer. The diagnosis of multiple sulfatase deficiency was demonstrated by measuring sulfatase activities in fresh leukocytes: there were large deficiencies of arylsulfatase A and B plus reduced arylsulfatase C. The ichthyosis associated with multiple sulfatase deficiency has an autosomal recessive inheritance, is caused by steroid sulfatase deficiency, and the scaling is sometimes milder than in X-linked recessive ichthyosis. This could reflect the residual activity of steroid sulfatase in some cases.
authors.affiliation: Department of Dermatology, Hospital 12 de Octubre, Madrid, Spain.
authors.forename: E
authors.initials: E
authors.lastname: Castaño Suárez
authors.forename: A
authors.initials: A
authors.lastname: Segurado Rodríguez
authors.forename: A
authors.initials: A
authors.lastname: Guerra Tapia
authors.forename: R
authors.initials: R
authors.lastname: Simón de las Heras
authors.forename: F
authors.initials: F
authors.lastname: López-Ríos
authors.forename: M J
authors.initials: MJ
authors.lastname: Coll Rosell
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000150:complications* / Q000473:pathology; D008607:Intellectual Disability / Q000150:complications; D007962:Leukocytes / Q000737:chemistry; D007966:Leukodystrophy, Metachromatic / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D008297:Male; D012867:Skin / Q000473:pathology*; D012871:Skin Diseases; D013429:Sulfatases / Q000032:analysis / Q000172:deficiency*
chemical_list: D013429:Sulfatases