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These are lysosomal storage diseases characterized by deficiency of different lysosomal enzymes. These enzymes are involved in the breakdown of various mucopolysaccharidoses (MPS) including dermatan sulfate, heparan sulfate, or keratin sulfate. These MPS will accumulate in various tissues and excreted in the urine.


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MPS Type Syndrome Enzyme Deficiency Urine Excretion
I Hurler alpha-L-iduronidase  
IS Scheie    
II Hunter iduronate-2-sulfate sulfatase  
III Sanfilippo   Heparan sulfate
IV Morquio   Keratan sulfate
VI Maroteaux-Lamy   Dermatan sulfate


GENERAL Biopsy of the skin may reveal metachromatic granules within the fibroblasts, eccrine sweat glands, and epidermal keratinocytes. Dermal mucin is common only in the mid and lower dermis of Hunter's syndrome.

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

Hanson M, Lupski JR, Hicks J, Metry D.

Department of Dermatology, Texas Children's Hospital, Baylor College of Medicine, Houston, 77030, USA.


Arch Dermatol. 2003 Jul;139(7):916-20. Abstract quote

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 associated with lysosomal storage disease is characterized by extensive, blue cutaneous pigmentation with dorsal and ventral distribution, indistinct borders, and persistent and/or "progressive" behavior. GM1 gangliosidosis type 1 and Hurler syndrome are the most common underlying disorders associated with these cutaneous features.

CONCLUSIONS: In the appropriate clinical setting, an unusual presentation of dermal melanocytosis in an infant may be a cutaneous sign of an underlying lysosomal storage disease. The pathogenetic mechanisms behind this association remain to be elucidated.

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Last Updated 1/5/2004

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