Child with macular hyperpigmentation, nevus flammeus, and systemic disorders: a variant of phakomatosis pigmentovascularis?

Abstract

Phakomatosis pigmentovascularis (PPV) is characterized by simultaneous occurrence of nevus flammeus and pigment abnormalities in the same individual. Four entities have been described based on the type of pigmented lesion associated with nevus flammeus. PPV can be further classified into localized and systemic, which includes central nervous system, eye, and bone abnormalities. In this article, we describe the original combination of nevus flammeus, widespread melanotic macules, and systemic disease, including neurologic and ocular alterations, occurring in a 2-year-old Brazilian boy. This case may represent a further variant of PPV.