Mucopolysaccharidoses

Background

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.

OUTLINE

Gross Appearance and Clinical Variants

Histopathological Features and Variants

Commonly Used Terms

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GROSS APPEARANCE/
CLINICAL VARIANTS CHARACTERIZATION

GENERAL

VARIANTS

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

V

VI Maroteaux-Lamy Dermatan sulfate

VII

VIII

IX

X

HISTOLOGICAL TYPES CHARACTERIZATION

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.

VARIANTS

DERMAL MELANOCYTOSIS

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.

Henry JB. Clinical Diagnosis and Management by Laboratory Methods. Twentieth Edition. WB Saunders. 2001.
Rosai J. Ackerman's Surgical Pathology. Ninth Edition. Mosby 2004.
Sternberg S. Diagnostic Surgical Pathology. Fourth Edition. Lipincott Williams and Wilkins 2004.
Robbins Pathologic Basis of Disease. Seventh Edition. WB Saunders 2005.
DeMay RM. The Art and Science of Cytopathology. Volume 1 and 2. ASCP Press. 1996.
Weedon D. Weedon's Skin Pathology Second Edition. Churchill Livingstone. 2002
Fitzpatrick's Dermatology in General Medicine. 5th Edition. McGraw-Hill. 1999.
Weiss SW and Goldblum JR. Enzinger and Weiss's Soft Tissue Tumors. Fourth Edition. Mosby 2001.

Commonly Used Terms

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Last Updated 1/5/2004

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Gross Appearance and Clinical Variants
Histopathological Features and Variants
Commonly Used Terms
Internet Links

GROSS APPEARANCE/ CLINICAL VARIANTS	CHARACTERIZATION
GENERAL
VARIANTS

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
V
VI	Maroteaux-Lamy		Dermatan sulfate
VII
VIII
IX
X

HISTOLOGICAL TYPES	CHARACTERIZATION
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.
VARIANTS
DERMAL MELANOCYTOSIS
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.