Phakomatosis pigmentovascularis type IIb: A case report.

Abstract

Phakomatosis pigmentovascularis (PPV) is a rare genodermatosis (estimated prevalence of 5.8 per 100,000 pediatric patients) characterized by the coexistence of capillary vascular malformations and dermal melanocytosis, resulting from postzygotic somatic mosaic mutations in the GNA11 and GNAQ genes. We report the case of a 3-year-old girl presenting with aberrant Mongolian spots, a port-wine stain, and nevus anemicus since birth, associated with expressive language delay, consistent with type IIb phakomatosis pigmentovascularis (phakomatosis cesioflammea with extracutaneous involvement). A multidisciplinary follow-up program was initiated, and brain magnetic resonance imaging is pending. This case contributes to the limited literature on this uncommon disorder from Latin America.