Extensive and Progressing Congenital Dermal Melanocytosis Leading to Diagnosis of GM1 Gangliosidosis

Pediatr Dermatol. 2015 Nov-Dec;32(6):e294-5. doi: 10.1111/pde.12666. Epub 2015 Sep 4.

Abstract

Congenital dermal melanocytosis (CDM) is a birthmark composed of macular blue-grey hyperpigmentation commonly observed in the lumbosacral region of infants. Generally resolving by childhood, it is traditionally considered a benign condition, but it may be a sign of underlying lysosomal storage disease. We report a case of biopsy-confirmed CDM in a 2-month-old girl of Brazilian descent later diagnosed with infantile GM1 gangliosidosis.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Brazil
  • Female
  • Gangliosidosis, GM1 / diagnosis*
  • Humans
  • Infant
  • Mongolian Spot / diagnosis*