Extensive and Progressing Congenital Dermal Melanocytosis Leading to Diagnosis of GM1 Gangliosidosis.
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.
Department of Dermatology, Massachusetts General Hospital, Boston, Massachusetts.
Priyanka
P
Vedak
Department of Dermatology, Massachusetts General Hospital, Boston, Massachusetts.|Harvard Medical School, Boston, Massachusetts.
Ryan
R
Sells
Department of Dermatology, Massachusetts General Hospital, Boston, Massachusetts.|Harvard Medical School, Boston, Massachusetts.
Aieska
A
De Souza
Harvard Medical School, Boston, Massachusetts.|Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts.
Mai P
MP
Hoang
Department of Dermatology, Massachusetts General Hospital, Boston, Massachusetts.|Harvard Medical School, Boston, Massachusetts.
Daniela
D
Kroshinsky
D001706:Biopsy; D001938:Brazil; D005260:Female; D016537:Gangliosidosis, GM1 / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D049328:Mongolian Spot / Q000175:diagnosis*