Extensive and Progressing Congenital Dermal Melanocytosis Leading to Diagnosis of  GM 1 Gangliosidosis | Zendy

Vedak Priyanka | Zendy; Sells Ryan | Zendy; De Souza Aieska | Zendy; Hoang Mai P. | Zendy; Kroshinsky Daniela | Zendy

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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.

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