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Shields, Carol L., MD*; Di Nicola, Maura, MD*,†; Pellegrini, Marco, MD*,‡; Shields, Jerry A., MD*

doi: 10.1097/IAE.0000000000001856
Original Study

Purpose: To describe the relationship of choroidal melanoma with phakomatosis pigmentovascularis in patients with Klippel–Trenaunay syndrome.

Methods: Retrospective review of 5 patients.

Results: In all 5 cases, the patient was white and the cutaneous port-wine stain was congenital. The port-wine stain involved the chin (n = 1), jawline (n = 2), lower cheek (n = 1), thorax (n = 5), abdomen (n = 4), upper (n = 4), and lower (n = 3) limb(s). The ocular melanocytosis involved the sclera (n = 5), iris (n = 2) and choroid (n = 4). At diagnosis of choroidal melanoma, mean patient age was 57 years (median 61, range 17–83 years). The melanoma demonstrated mean basal diameter of 11.6 mm (median 12, range 5–16 mm) and mean thickness of 5.7 mm (median 6.1, range 2–9), revealing intrinsic tumor pigment and subretinal fluid in all cases. Melanoma management included plaque radiotherapy (n = 3), thermotherapy (n = 1), or enucleation (n = 1). At mean follow-up of 4 years, one patient demonstrated melanoma-related metastasis with death.

Conclusion: Phakomatosis pigmentovascularis represents coexistence of Klippel–Trenaunay syndrome (or Sturge–Weber syndrome) and oculo(dermal) melanocytosis, promoting risk for life-threatening uveal melanoma. The authors suggest that all patients with Klippel–Trenaunay syndrome be evaluated for phakomatosis pigmentovascularis and affected patients have dilated fundus examination once or twice a year.

Five patients with choroidal melanoma demonstrated background phakomatosis pigmentovascularis with Klippel–Trenaunay syndrome, manifesting cutaneous port-wine stain of thorax/abdomen/limb(s) and oculo(dermal) melanocytosis. This syndrome can promote malignant uveal melanoma and requires long-term monitoring.

*Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania;

Ophthalmological Unit, Department of Clinical Sciences and Community Health, Ca' Granda Foundation-Ospedale Maggiore Policlinico, University of Milan, Milan, Italy; and

Department of Biomedical and Clinical Science “Luigi Sacco”, Eye Clinic, Luigi Sacco Hospital, University of Milan, Milan, Italy.

Reprint requests: Carol L. Shields, MD, Ocular Oncology Service, Suite 1440, Wills Eye Hospital, 840 Walnut Street, Philadelphia, PA 19107; e-mail:

Support provided by the Eye Tumor Research Foundation, Philadelphia, PA (C.L.S., J.A.S.). The funders had no role in the design and conduct of the study, in the collection, analysis, and interpretation of the data, and in the preparation, review, or approval of the manuscript.

None of the authors has any conflicting interests to disclose.

C. L. Shields has had full access to all the data in the study and takes responsibility for the integrity of the data and accuracy of the analysis.

© 2018 by Ophthalmic Communications Society, Inc.