Phacomatosis Pigmentovascularis: Genetic Insights through Cutaneous Pigmentation

Phacomatosis pigmentovascularis is a group of alterations involving a vascular malformation and a melanocytic lesion, and have diverse clinical cutaneous manifestations, which is the base for the current classification. Furthermore, systemic alterations can occur, including ophthalmological and neurological alterations, some with long term sequalae potential. The case of a 16-day old male patient without previous illness presenting with vascular and pigmented lesions is presented here, with subsequent referral to rule out the most important systemic alterations.