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Extensive and Progressing Congenital Dermal Melanocytosis Leading to Diagnosis of GM1 Gangliosidosis.
Pediatr Dermatol 2015 Nov-Dec; 32(6):e294-5PD

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.

Authors+Show Affiliations

Department of Dermatology, Massachusetts General Hospital, Boston, Massachusetts.Department of Dermatology, Massachusetts General Hospital, Boston, Massachusetts. Harvard Medical School, Boston, Massachusetts.Department of Dermatology, Massachusetts General Hospital, Boston, Massachusetts. Harvard Medical School, Boston, Massachusetts.Harvard Medical School, Boston, Massachusetts. Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts.Department of Dermatology, Massachusetts General Hospital, Boston, Massachusetts. Harvard Medical School, Boston, Massachusetts.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

26337817

Citation

Vedak, Priyanka, et al. "Extensive and Progressing Congenital Dermal Melanocytosis Leading to Diagnosis of GM1 Gangliosidosis." Pediatric Dermatology, vol. 32, no. 6, 2015, pp. e294-5.
Vedak P, Sells R, De Souza A, et al. Extensive and Progressing Congenital Dermal Melanocytosis Leading to Diagnosis of GM1 Gangliosidosis. Pediatr Dermatol. 2015;32(6):e294-5.
Vedak, P., Sells, R., De Souza, A., Hoang, M. P., & Kroshinsky, D. (2015). Extensive and Progressing Congenital Dermal Melanocytosis Leading to Diagnosis of GM1 Gangliosidosis. Pediatric Dermatology, 32(6), pp. e294-5. doi:10.1111/pde.12666.
Vedak P, et al. Extensive and Progressing Congenital Dermal Melanocytosis Leading to Diagnosis of GM1 Gangliosidosis. Pediatr Dermatol. 2015;32(6):e294-5. PubMed PMID: 26337817.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Extensive and Progressing Congenital Dermal Melanocytosis Leading to Diagnosis of GM1 Gangliosidosis. AU - Vedak,Priyanka, AU - Sells,Ryan, AU - De Souza,Aieska, AU - Hoang,Mai P, AU - Kroshinsky,Daniela, Y1 - 2015/09/04/ PY - 2015/9/5/entrez PY - 2015/9/5/pubmed PY - 2016/9/16/medline SP - e294 EP - 5 JF - Pediatric dermatology JO - Pediatr Dermatol VL - 32 IS - 6 N2 - 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. SN - 1525-1470 UR - https://www.unboundmedicine.com/medline/citation/26337817/Extensive_and_Progressing_Congenital_Dermal_Melanocytosis_Leading_to_Diagnosis_of_GM1_Gangliosidosis_ L2 - https://doi.org/10.1111/pde.12666 DB - PRIME DP - Unbound Medicine ER -