title: Phacomatosis pigmentovascularis of cesioflammea type in 7 patients: combination of ocular pigmentation (melanocytosis or melanosis) and nevus flammeus with risk for melanoma.
abstract: OBJECTIVE
  To describe the features of phacomatosis pigmentovascularis (cesioflammea type).
  
  
  METHODS
  Noninterventional retrospective case series composed of 7 patients.
  
  
  RESULTS
  Nevus flammeus combined with ipsilateral ocular melanocytosis or melanosis was seen in all 7 patients. Additional contralateral nevus flammeus was observed in 3 patients. Nevus flammeus (unilateral in 4 patients and bilateral in 3 patients) was distributed in trigeminal nerves V1 (n = 3), V2 (n = 7), and V3 (n = 5). Related findings included diffuse choroidal hemangioma (n = 1) and glaucoma (n = 1), with no patients having brain hemangioma or seizures. Ocular pigmentary abnormalities (unilateral in all 7 patients) included congenital ocular melanocytosis (n = 6) and conjunctival acquired melanosis (n = 1). Pigmentation was sectorial (partial) in 5 patients and complete in 2 patients. Melanocytosis involved the periocular skin in 1 patient, sclera in 2 patients, iris in 2 patients, and choroid in 4 patients. In 3 of 6 patients, melanocytosis was visible in the choroid only on dilated fundus evaluation. Related tumors included choroidal melanoma (n = 3), optic disc melanocytoma (n = 1), and conjunctival melanoma in situ (primary acquired melanosis) (n = 1). Melanoma metastasis developed in 1 patient.
  
  
  CONCLUSIONS
  Phacomatosis pigmentovascularis shows features of nevus flammeus and more serious ocular pigmentary abnormalities (uveoscleral melanocytosis and conjunctival melanosis). Melanocytosis may be detected only by dilated ocular fundus examination, as found in 3 of 6 patients. Furthermore, choroidal melanoma can develop from melanocytosis, as noted in 3 of our 6 patients (50%). All patients with nevus flammeus should be examined for phacomatosis pigmentovascularis by an ophthalmologist because ocular melanocytosis and uveal melanoma may remain hidden within the eye.
authors.affiliation: Ocular Oncology Service, Wills Eye Institute, Thomas Jefferson University, Philadelphia, PA 19107, USA. carol.shields@shieldsoncology.com
authors.forename: Carol L
authors.initials: CL
authors.lastname: Shields
authors.forename: Brad E
authors.initials: BE
authors.lastname: Kligman
authors.forename: Mayerling
authors.initials: M
authors.lastname: Suriano
authors.forename: Vanessa
authors.initials: V
authors.lastname: Viloria
authors.forename: Juan C
authors.initials: JC
authors.lastname: Iturralde
authors.forename: Margaret V
authors.initials: MV
authors.lastname: Shields
authors.forename: Emil A T
authors.initials: EA
authors.lastname: Say
authors.forename: Jerry A
authors.initials: JA
authors.lastname: Shields
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008545:Melanoma / Q000150:complications / Q000175:diagnosis; D020752:Neurocutaneous Syndromes / Q000150:complications / Q000175:diagnosis; D019339:Port-Wine Stain / Q000150:complications* / Q000175:diagnosis; D011379:Prognosis; D012307:Risk Factors; D014604:Uveal Neoplasms / Q000150:complications / Q000175:diagnosis; D000098943:Uveal Melanoma