Phacomatosis pigmentovascularis is a rare condition defined by the simultaneous presence of a cutaneous vascular malformation (most often nevus flammeus) with melanocytic nevus (most often ocular or dermal melanocytosis or both). Because few series have been published on this condition, the authors present this case series describing seven patients with phacomatosis cesioflammea, all diagnosed following ocular consultation.
The authors note some new findings, including epiretinal membrane in one patient, primary acquired melanosis (melanoma in situ) in one patient, and related choroidal melanoma in three patients. In several patients, ocular melanocytosis was not obvious externally, as it involved primarily the choroid.
All seven patients presented with nevus flammeus (unilateral in four patients and bilateral in three) combined with ipsilateral ocular melanocytosis or melanosis. Additional contralateral nevus flammeus was observed in three patients. Nevus flammeus was distributed in trigeminal nerves V1 (n = 3), V2 (n = 7), and V3 (n = 5). Related findings included diffuse choroidal hemangioma in one patient, glaucomain one patient . No patient had abrain hemangioma or seizures.
Ocular pigmentary abnormalities (unilateral in all seven patients) included congenital ocular melanocytosis in six patients and conjunctival acquired melanosis in one patient. One patient had epiretinal membrane and three had choroidal melanoma. Pigmentation was partial in five patients and complete in two. Melanocytosis involved the periocular skin in one patient, sclera in two patients, iris in two patients, and choroid in four patients. One patient developed melanoma metastasis.
Melanocytosis was not visible externally in five of six patients and was apparent only with close examination of the sclera, iris and choroid. Pigment was solely in the choroid in three of six patients and found only after dilated ocular examination.
They conclude that all patients with phacomatosis pigmentovascularis, nevus flammeus, or Sturge-Weber syndrome should have a complete ocular evaluation, including dilated fundus evaluation, by an ophthalmologist to search for related melanocytosis and possible melanoma, which may not be clinically evident to non-ophthalmologists.