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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… Click to show full abstract
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
Keywords:
presenting rare;
patient presenting;
rare combination;
features patient;
ocular features;
combination multiple
Journal Title: BMJ Case Reports
Year Published: 2022
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Journal Title: BMJ Case Reports
Year Published: 2022
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!