Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2023 Mar 1;17(2):130-133.
doi: 10.1097/ICB.0000000000001154.

CHOROIDAL MELANOMA IN PHAKOMATOSIS PIGMENTOVASCULARIS WITH OVERLAPPING STURGE-WEBER SYNDROME AND KLIPPEL-TRENAUNAY SYNDROME

Matthew V Fry  1 , Basil K Williams Jr, Hyun Jun Kim, Maura Di Nicola
Affiliations
Case Reports

CHOROIDAL MELANOMA IN PHAKOMATOSIS PIGMENTOVASCULARIS WITH OVERLAPPING STURGE-WEBER SYNDROME AND KLIPPEL-TRENAUNAY SYNDROME

Matthew V Fry et al. Retin Cases Brief Rep. .

Abstract

Purpose: To present the rare occurrence of choroidal melanoma in an adult patient with phakomatosis pigmentovascularis and an overlap of Sturge-Weber syndrome and Klippel-Trenaunay syndrome.

Methods: Observational case report.

Results: A 75-year-old White woman with nevus flammeus involving the left forehead, periorbital area, cheek, chin, upper limb, and trunk, along with hemihypertrophy of the left side of the face and left upper limb, presented for evaluation of an intraocular mass in the left eye. Anterior examination of the left eye showed diffuse episcleral and iris melanocytosis. Fundus examination of the left eye showed diffuse choroidal melanocytosis and an elevated choroidal lesion. B-scan ultrasonography demonstrated a hollow lesion, and the patient was diagnosed with choroidal melanoma in the left eye in the setting of phakomatosis pigmentovascularis with overlap of Sturge-Weber syndrome and Klippel-Trenaunay syndrome. Fine-needle aspiration biopsy confirmed the diagnosis, and Iodine 125 plaque radiotherapy was performed.

Conclusion: Individuals with clinical features suggestive of phakomatosis pigmentovascularis, Sturge-Weber syndrome, or Klippel-Trenaunay syndrome should undergo a complete ophthalmological evaluation for the presence of ocular melanocytosis and uveal melanoma.

PubMed Disclaimer

References

    1. Abdolrahimzadeh S, Scavella V, Felli L, et al. Ophthalmic alterations in the Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and the phakomatosis pigmentovascularis: an independent group of conditions?. Biomed Res Int 2015;2015:786519.
    1. Shields CL, Kligman BE, Suriano M, et al. Phacomatosis pigmentovascularis of cesioflammea type in 7 patients: combination of ocular pigmentation (melanocytosis or melanosis) and nevus flammeus with risk for melanoma. Arch Ophthalmol 2011;129:746–750.
    1. Shields CL, Di Nicola M, Pellegrini M, Shields JA. Choroidal melanoma in phakomatosis pigmentovascularis with Klippel-Trenaunay syndrome. Retina 2018;38:2220–2227.
    1. Abdolrahimzadeh S, Pugi DM, de Paula A, Scuderi G. Ocular manifestations in phakomatosis pigmentovascularis: current concepts on pathogenesis, diagnosis, and management. Surv Ophthalmol 2020.
    1. Singh AD, De Potter P, Fijal BA, et al. Lifetime prevalence of uveal melanoma in white patients with oculo(dermal) melanocytosis. Ophthalmology 1998;105:195–198.

Supplementary concepts