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Extensive and Progressing Congenital Dermal Melanocytosis Leading to Diagnosis of GM 1 Gangliosidosis
Author(s) -
Vedak Priyanka,
Sells Ryan,
De Souza Aieska,
Hoang Mai P.,
Kroshinsky Daniela
Publication year - 2015
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12666
Subject(s) - medicine , hyperpigmentation , dermatology , girl , skin biopsy , lysosomal storage disease , biopsy , pigmentation disorder , pediatrics , disease , pathology , psychology , developmental psychology
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 GM 1 gangliosidosis.