28580 Diffuse capillary malformation with overgrowth and phakomatosis pigmentovascularis type II in a newborn

Abstract

The most common vascular lesion in pediatric patients is a capillary malformation (CM). CMs can be localized, diffuse, or found in association with vascular malformation syndromes. Diffuse capillary malformation with overgrowth (DCMO) describes a widespread capillary malformation associated with nonprogressive, proportional enlargement of soft or bony tissue. In contrast, phakomatosis pigmentovascularis (PPV) is a rare congenital syndrome associated with vascular anomalies, often a nevus flammeus, and melanocytic lesions. Of the five subtypes, type II is the most common and presents with a nevus flammeus and dermal melanocytosis. Herein, we discuss a unique case of a two-day-old female infant who presented with extensive vascular malformations, limb hemihypertrophy, and melanocytic nevi suspicious for both DCMO and PPV type II. The team was consulted for evaluation of a two-day-old female infant born with right leg and left knee capillary malformations and right-sided leg hemihypertrophy. On examination, the infant was further noted to have two isolated CMs on her forehead and lip and dermal melanocytosis on her buttock. There was no deep lymphatic or venous malformations noted on her right leg ultrasound; therefore, Klippel-Trenaunay syndrome was less probable. The patient’s both conditions warranted periodic follow-up with pediatric specialists, as DMCO necessitates limb-length monitoring and PPV can be associated with CNS and ocular abnormalities. As both diseases themselves are rare, the patient’s presentation made her disease a diagnostic challenge. Dermatologists should be aware of the rare, concomitant presentation of DCMO and PPV and should be aware of the needed referrals and follow-up.