1.
Indian J Dermatol Venereol Leprol
;
2006 Jul-Aug; 72(4): 326
Article
in English
| IMSEAR
| ID: sea-52058
2.
Indian J Dermatol Venereol Leprol
;
2006 Mar-Apr; 72(2): 147-9
Article
in English
| IMSEAR
| ID: sea-52602
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.
Subject(s)
Child, Preschool , Female , Hair/pathology , Hematopoietic Stem Cell Transplantation , Humans , Mucopolysaccharidosis I/diagnosis
3.
Indian J Dermatol Venereol Leprol
;
2005 Jan-Feb; 71(1): 53-4
Article
in English
| IMSEAR
| ID: sea-52151