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Indian Journal of Dermatology, Venereology and Leprology
Medknow Publications on behalf of The Indian Association of Dermatologists, Venereologists and Leprologists (IADVL)
ISSN: 0378-6323
EISSN: 0378-6323
Vol. 72, No. 2, 2006, pp. 147-149
Bioline Code: dv06045
Full paper language: English
Document type: Research Article
Document available free of charge

Indian Journal of Dermatology, Venereology and Leprology, Vol. 72, No. 2, 2006, pp. 147-149

 en Case Report - Hurler syndrome with a tuft of hair
Behera Binodini, Jena DK, Chhetia R, Vijayashree J

Abstract

A 2-year-old girl presented with coarse, thick hairy skin all over the body, a tuft of hair in the parietal region, coarse facial features and a prominent forehead with a large tongue, hepatosplenomegaly and skeletal deformities. Mucopolysaccharides excretion spot test of the urine was positive; and an assay for glycosaminoglycans in the urine was also high, which confirmed the clinical diagnosis of Hurler syndrome. We present this rare case to discuss the possibility of the association of mental retardation with a tuft of hair in this syndrome.

Keywords
Bone marrow, Hurler syndrome, Mucopolysaccharidosis (MPS) - type I, Transplantation

 
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Alternative site location: http://www.ijdvl.com

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