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

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 disea...

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Bibliographic Details
Published in:Pediatric dermatology 2015-11, Vol.32 (6), p.e294-e295
Main Authors: Vedak, Priyanka, Sells, Ryan, De Souza, Aieska, Hoang, Mai P., Kroshinsky, Daniela
Format: Article
Language:English
Subjects:
Biopsy
Brazil
Female
Gangliosidosis, GM1 - diagnosis
Humans
Infant
Mongolian Spot - diagnosis
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Summary: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.
ISSN:0736-8046
1525-1470
DOI:10.1111/pde.12666