Ichthyosis: The Skin Manifestation of Multiple Sulfatase Deficiency

• Published in: Pediatric dermatology Vol. 14; no. 5; pp. 369 - 372
• Main Authors: Sudrez, E. Castaño, Rodriguez, A. Segurado, Tapia, A. Guerra, Simon de las Heras, R., Lopez‐Rios, F., Rosetl, M. Josep Coll
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.09.1997; Blackwell
• Subjects: Biological and medical sciences; Child; Dermatology; Dyskeratosis; Female; Humans; Ichthyosis - complications; Ichthyosis - pathology; Intellectual Disability - complications; Leukocytes - chemistry; Leukodystrophy, Metachromatic - complications; Leukodystrophy, Metachromatic - diagnosis; Leukodystrophy, Metachromatic - genetics; Male; Medical sciences; Skin - pathology; Skin Diseases; Sulfatases - analysis; Sulfatases - deficiency; Human; Dyskeratosis; Skin disease; Multiple; Enzyme; Deficiency; Hyperkeratosis; Metabolic diseases; Esterases; Genetic disease; Ichthyosis; Case study; Arylsulfatase; Hydrolases; Sulfuric ester hydrolases; Child
• ISSN: 0736-8046; 1525-1470
• DOI: 10.1111/j.1525-1470.1997.tb00984.x

: Juvenile sulfatidosis (Austin type) or multiple suifatase deficiency is an extremely rare autosomai recessive disorder affecting the activity of many suifatases: arylsuifatase A, several mucopolysaccharide sutfatases, and steroid sulfatase. Certain aspects of the ciinical phenotype can be attributed mainly to a deficiency of one specific suifatase. Most patients develop metachromatic ieukodystrophy caused by aryisuifatase 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 arylsuifatase A and B plus reduced arylsuifatase 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 suifatase in some cases