Phakomatosis pigmentovascularis: Clinical findings in 15 patients and review of the literature

J Am Acad Dermatol. 2008 Jan;58(1):88-93. doi: 10.1016/j.jaad.2007.08.012. Epub 2007 Nov 28.

Abstract

Introduction: Phakomatosis pigmentovascularis (PPV) is a rare syndrome characterized by the association of a vascular nevus with an extensive pigmentary nevus.

Objective: We sought to study and evaluate clinical findings in patients with PPV referred to the laser department of our hospital.

Methods: We revised the clinical findings of 15 patients with PPV and reclassified them according to Happle's new classification.

Results: We studied 11 female patients and 4 male patients with a mean age of 21 years. Thirteen had phakomatosis cesioflammea, one cesiomarmorata, and one an unclassifiable form. Of 15 patients, 12 had nevus of Ota. The vascular involvement was extensive in our PPV population and 14 patients were affected in two or more areas. The mosaicism pattern in 13 patients was patchy and without a midline separation. The most frequent associations found were Sturge-Weber syndrome, Klippel-Trénaunay syndrome, and melanosis oculi.

Limitations: Limitations include the methods of case collection, that this is a retrospective study, and that there were a relatively small number of patients.

Conclusions: PPV are rare syndromes with a wide variability in their clinical expression. Most of the publications in the literature have only reported isolated cases.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Eye Diseases / complications
  • Female
  • Humans
  • Infant
  • Klippel-Trenaunay-Weber Syndrome / complications
  • Male
  • Melanosis / complications
  • Middle Aged
  • Mosaicism
  • Nevus / complications
  • Nevus / genetics
  • Nevus / pathology*
  • Nevus, Pigmented / complications
  • Nevus, Pigmented / genetics
  • Nevus, Pigmented / pathology*
  • Retrospective Studies
  • Skin Neoplasms / complications
  • Skin Neoplasms / genetics
  • Skin Neoplasms / pathology*
  • Sturge-Weber Syndrome / complications
  • Syndrome
  • Vascular Neoplasms / complications
  • Vascular Neoplasms / genetics
  • Vascular Neoplasms / pathology*