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Clinical Features and Hypotheses Regarding Pathogenesis

Miriam Hanson; James R. Lupski, MD; John Hicks, MD; Denise Metry, MD

Arch Dermatol. 2003;139:916-920.

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.

From the Departments of Dermatology (Ms Hanson and Dr Metry), Genetics (Dr Lupski), Pathology (Dr Hicks), and Pediatrics (Drs Hicks and Metry), Texas Children's Hospital, Baylor College of Medicine. The authors have no relevant financial interest in this article.

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