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

Pediatric Dermatology
Priyanka VedakDaniela Kroshinsky

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.

References

Apr 2, 2009·Pediatrics·Orna Staretz-ChachamEllen Sidransky
Apr 19, 2011·Biochimica Et Biophysica Acta·Anna CaciottiAmelia Morrone
Jun 4, 2011·Genetics and Molecular Biology·Cléia BaiottoRoberto Giugliani

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Citations

Feb 16, 2019·Journal of the European Academy of Dermatology and Venereology : JEADV·C BaykalN Büyükbabani

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