Extensive and Progressing Congenital Dermal Melanocytosis Leading to Diagnosis of GM1 Gangliosidosis |
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| Authors: | Priyanka Vedak BA Ryan Sells MD Aieska De Souza MD PhD Mai P Hoang MD Daniela Kroshinsky MD MPH |
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| Institution: | 1. Department of Dermatology, Massachusetts General Hospital, Boston, Massachusetts;2. Harvard Medical School, Boston, Massachusetts;3. Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts |
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| 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. |
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