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Case Reports: Rare disease
Ocular features in a patient presenting with a rare combination of multiple phakomatoses
  1. Vijayalakshmi A Senthilkumar1,
  2. Piyush Kohli2,
  3. Chitaranjan Mishra1 and
  4. Kavitha Mamchisetti1
  1. 1Department of Glaucoma, Aravind Eye Hospital, Madurai, Tamil Nadu, India
  2. 2Department of Vitreoretinal services, C.L. Gupta Eye Institute, Moradabad, Uttar Pradesh, India
  1. Correspondence to Dr Piyush Kohli; kohli119{at}gmail.com

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

  • Dermatology
  • Ophthalmology
  • Congenital disorders

http://dx.doi.org/10.1136/bcr-2022-252746

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    Footnotes

    • Contributors VAS contributed to the conception and design, acquisition of data,drafting of the article or revising it critically for important intellectual content. PK contributed to the conception and design, acquisition of data,drafting of the article or revising it critically for important intellectual content. CM contributed to the conception and design, acquisition of data,drafting of the article or revising it critically for important intellectual content. KM contributed to the conception and design, acquisition of data,drafting of the article or revising it critically for important intellectual content.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.