Port-wine stain as a clue for two rare coexisting entities

BMJ Case Rep. 2018 Jul 13:2018:bcr2018225721. doi: 10.1136/bcr-2018-225721.

Abstract

Phakomatosis pigmentovascularis (PPV) is an uncommon dermatosis characterised by the presence of both pigmentary and vascular abnormalities.1 Its pathogenesis is not elucidated, and the prognosis is mainly determined by the presence of extracutaneous manifestations, such as Klippel-Trenaunay syndrome (KTS), that is defined by the triad of a port-wine stain (PWS), anomalous veins and progressive overgrowth of the affected extremity. Herein, we report a case of an adult patient, who presented with a large PWS, nevus of Ota, ocular melanosis, and limb hypertrophy and varicosities. These findings represented a rare association of PPV type IIb and KTS.

Keywords: dermatology; ophthalmology.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Capillaries / abnormalities
  • Diagnosis, Differential
  • Humans
  • Klippel-Trenaunay-Weber Syndrome / complications*
  • Klippel-Trenaunay-Weber Syndrome / diagnosis
  • Male
  • Melanosis / complications
  • Melanosis / diagnosis
  • Neurocutaneous Syndromes / classification
  • Neurocutaneous Syndromes / complications*
  • Neurocutaneous Syndromes / diagnosis
  • Port-Wine Stain / complications*
  • Port-Wine Stain / diagnosis
  • Vascular Malformations / complications
  • Vascular Malformations / diagnosis

Supplementary concepts

  • Capillary Malformations, Congenital, 1
  • Phacomatosis pigmentovascularis