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.
Retina. 2018 Nov;38(11):2220-2227. doi: 10.1097/IAE.0000000000001856.
To describe the relationship of choroidal melanoma with phakomatosis pigmentovascularis in patients with Klippel-Trenaunay syndrome.
Retrospective review of 5 patients.
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.
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.
描述 Klippel-Trenaunay 综合征患者脉络膜黑色素瘤与色素血管性斑痣病的关系。
回顾性分析 5 例患者。
在所有 5 例患者中，患者均为白人，先天性皮肤葡萄酒色斑。葡萄酒色斑累及颏部（n = 1）、下颌线（n = 2）、面颊下部（n = 1）、胸部（n = 5）、腹部（n = 4）、上肢（n = 4）和下肢（n = 3）。眼球黑色素增多累及巩膜（n = 5）、虹膜（n = 2）和脉络膜（n = 4）。在诊断为脉络膜黑色素瘤时，患者平均年龄为 57 岁（中位数 61 岁，范围 17-83 岁）。黑色素瘤的平均基底直径为 11.6mm（中位数 12mm，范围 5-16mm），平均厚度为 5.7mm（中位数 6.1mm，范围 2-9mm），所有病例均显示肿瘤内固有色素和视网膜下积液。黑色素瘤的治疗包括贴敷放疗（n = 3）、热疗（n = 1）或眼球摘除术（n = 1）。平均 4 年的随访中，1 例患者出现与黑色素瘤相关的转移和死亡。
色素血管性斑痣病代表 Klippel-Trenaunay 综合征（或 Sturge-Weber 综合征）和眼（皮肤）黑色素增多的共存，增加了危及生命的葡萄膜黑色素瘤的风险。作者建议对所有 Klippel-Trenaunay 综合征患者进行色素血管性斑痣病评估，受累患者每年进行 1 至 2 次眼底检查。
