Congenital Mastocytosis: Case Report and Review of the Literature

Mastocytosis is a rare infiltrative disorder characterized by mast cell proliferation within the skin and various extra-cutaneous organ systems. We report the case of a full-term neonate admitted to the neonatal intensive care unit for evaluation of diffuse skin lesions on her face, trunk and extremities. Initially, the lesions appeared to be consistent with a blueberry muffin rash. However, over a period of days the lesions became vesicular and changed in shape and number. The neonate underwent evaluation for infective etiologies, skin biopsy of the lesions, and flow cytometry analysis of the peripheral blood. The surgical pathology examination of the skin biopsy demonstrated mast cells consistent with a diagnosis of cutaneous mastocytosis. A review of relevant literature is also provided.