Delhi Journal of Ophthalmology

Phakomatosis Pigmentovascularis Coexisting with a Variant of Sturge Weber Syndrome - A Rare Occurrence

Priyanka Singh, Nayana A. Potdar, Ankita Patil, Pritam K. Mohite, Chhaya A. Shinde, Pooja Bandivadekar
Department of Ophthalmology, LTMMC & GH Mumbai, Maharashtra, India

Editor-in-Chief, Delhi Journal of Ophthalmology, Dr R.P.Centre, AIIMS.

Corresponding Author:

Priyanka Singh 
Department of Ophthalmology
OPD Building, Lokmanya Tilak Municipal Medical College & General Hospital (LTMMC&GH), Sion, Mumbai-400022
Maharashtra, India
Email id:

Published Online: 31-JAN-2019

The spectrum of phacomatoses is wide and they share common pathophysiological changes. The various entities widely studied and being reported are Sturge Weber Syndrome (SWS), Klippel Trenaunay Syndrome and Phakomatosis Pigmentovascularis (PPV). Here we report a rare case of coexisting  Phakomatosis cesioflaemmea type of PPV along with a type 1 variant of Sturge Weber Syndrome. Co- existence of PPV with SWS is known but  rare. Management of ocular manifestation especially glaucoma, is challenging in such neurocutaneous conditions but this particular case responded well to medical therapy for glaucoma. This case  will help us broaden our outlook when dealing with various phakomatosis, keeping in mind overlapping signs of different syndromes and tendency of few syndromes to increase preponderance to malignant transformation which will require close follow up for the same.

Keywords :Phakomatosis Pigmentovascularis, Sturge Weber Syndrome, Choroidal hemangioma, Nevus flemmus