Dermal melanocytosis as a sign of GM1 gangliosidosis.


How to Cite

Macedo de Moura H., Lira da Câmara Costa V., Araujo Palmeira Queiroz M.C., Ribeiro Junior J.P., Melo de Oliveira Lima P. 2024. Dermal melanocytosis as a sign of GM1 gangliosidosis. Eur. J. Pediat. Dermatol. 34 (1):12-5. 10.26326/2281-9649.34.1.2579.


Macedo de Moura H. Lira da Câmara Costa V. Araujo Palmeira Queiroz M.C. Ribeiro Junior J.P. Melo de Oliveira Lima P.
pp. 12-5


GM1 gangliosidosis is an autosomal recessive hereditary disease resulting from deficiency of the enzyme β-galactosidase, which leads to massive accumulation of GM1 gangliosides in various tissues. Dermal melanocytosis is the persistence of dendritic melanocytes in the dermis: usually present as a Mongolian spot in the sacral region, it tends to spontaneously regress. A very extensive dermal melanocytosis both in the dorsal and ventral region and in the limbs, persistent and with an extensive tendency, is sometimes associated with gangliosidosis and can be a revealing sign of the disease. We describe the case of a 7-month-old girl in whom extensive dermal melanocytosis led to the early diagnosis of GM1 gangliosidosis.


gangliosidosis, melanocytes, newborn