Association of Dermal Melanocytosis With Lysosomal Storage Disease

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Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis.

BACKGROUND The potential association of dermal melanocytosis with lysosomal storage disease in infancy is an uncommonly known and poorly understood entity. OBSERVATIONS We describe 2 infants with extensive dermal melanocytosis in association with GM1 gangliosidosis type 1 and Hurler syndrome, respectively. A literature analysis revealed 37 additional cases. Clinically, dermal melanocytosis as...

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how to cite this article: ghofrani m. lysosomal storage disease (lsds). iran j child neurol. 2015 autumn;9:4(suppl.1): 1. pls see pdf.

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lysosomal storage disease

how to cite this article: ghofrani m. lysosomal storage disease. iran j child neurol autumn 2012; 6:4 (suppl. 1):1-2.   for reading more pls see pdf

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Lysosomal storage disease.

We report a case of lysosomal storage disease diagnosed by lysosomal enzyme assay in a two year old boy with a history of gradual onset of weakness of body, poor vision, flaccid neck and spasticity in all four limbs with hyper-reflexia. On fundus examination cherry red spots were noted at macula. On performing lysosomal enzyme assay, beta-galactosidase level was considerably low. This indicates...

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An unusual case of congenital dermal melanocytosis.

Dermal melanocytosis is characterized by the presence of ectopic melanocytes in the dermis. The most common forms include the Mongolian spot, blue nevus, nevus of Ota, and nevus of Ito. Some types of dermal melanocytosis do not fit into any of these morphologic categories, however. Our case demonstrated an extensive amount of uniform deep blue patches of nevi with unilateral distribution on the...

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ژورنال

عنوان ژورنال: Archives of Dermatology

سال: 2003

ISSN: 0003-987X

DOI: 10.1001/archderm.139.7.916