Malignant hypertension in a child with phakomatosis pigmentovascularis type II b

Phakomatosis pigmentovascularis (PPV) is a rare congenital syndrome characterized predominantly by cutaneous vascular malformations and pigmentary naevi. The most frequently reported form, Type II b, is associated with systemic involvement. Sturge-Weber Syndrome (SWS) with concomitant glaucoma, Klippel-Trenaunay Syndrome (KTS) and naevus of Ota have been frequently described, but there have only been two case reports with asymptomatic renal anomalies.

We report the first case of PPV associated with SWS and naevus of Ota presenting with malignant hypertension secondary to bilateral renal artery stenosis. This case raises the possibility that the phakomatoses are not distinct entities but a spectrum of overlapping neurocutaneous, vascular and renal features.