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- Title
Extensive and Progressing Congenital Dermal Melanocytosis Leading to Diagnosis of GM1 Gangliosidosis.
- Authors
Vedak, Priyanka; Sells, Ryan; De Souza, Aieska; Hoang, Mai P.; Kroshinsky, Daniela
- 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.
- Subjects
LYSOSOMAL storage diseases; BIOPSY; RESPIRATORY infections
- Publication
Pediatric Dermatology, 2015, Vol 32, Issue 6, pe294
- ISSN
0736-8046
- Publication type
Article
- DOI
10.1111/pde.12666