Ocular features in a patient presenting with a rare combination of multiple phakomatoses.
Vijayalakshmi A SenthilkumarPiyush KohliChitaranjan MishraKavitha MamchisettiPublished in: BMJ case reports (2022)
Phakomatoses are a group of congenital disorders characterised by hamartomatous lesions of the skin as well as the central and peripheral nervous systems. The presence of naevus flammeus or port-wine stain is a characteristic feature of many such disorders including Sturge-Weber syndrome (SWS), Klippel-Trenaunay syndrome (KTS) and Phakomatosis pigmentovascularis (PPV).We describe the ocular findings in a patient with coexisting PPV, SWS and KTS.