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

Miriam Hanson1, James R Lupski, John Hicks

  • 1Department of Dermatology, Texas Children's Hospital, Baylor College of Medicine, Houston, 77030, USA.

Archives of Dermatology
|July 23, 2003
PubMed

Insights

Unusual infant skin pigmentation, known as dermal melanocytosis, may indicate an underlying lysosomal storage disease. Early recognition is key for diagnosing conditions like GM1 gangliosidosis and Hurler syndrome.

Area of Science:

  • Pediatric Dermatology
  • Medical Genetics
  • Lysosomal Storage Diseases

Background:

  • The association between dermal melanocytosis and lysosomal storage diseases (LSDs) in infants is not widely recognized or understood.
  • Dermal melanocytosis presents as blue cutaneous pigmentation, often extensive and persistent.

Purpose of the Study:

  • To describe infants with dermal melanocytosis linked to LSDs.
  • To analyze existing literature on this association.
  • To characterize the clinical presentation and identify common underlying disorders.

Main Methods:

  • Case report of two infants with dermal melanocytosis associated with GM1 gangliosidosis type 1 and Hurler syndrome.
  • Comprehensive literature review to identify and analyze additional cases (37 identified).

Main Results:

  • Dermal melanocytosis in LSDs typically presents as extensive, blue, persistent, and sometimes progressive cutaneous pigmentation with indistinct borders.
  • GM1 gangliosidosis type 1 and Hurler syndrome were the most frequently identified LSDs associated with these cutaneous findings.

Conclusions:

  • Extensive dermal melanocytosis in infants can be a cutaneous manifestation of an underlying LSD.
  • Further research is needed to elucidate the pathogenic mechanisms connecting these conditions.
Abstract

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