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Phacomatosis pigmentovascularis

Other Names for this Disease
  • Association of cutaneous vascular malformations and different pigmentary disorders
  • Phakomatosis pigmentovascularis
  • PPV
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What are the signs and symptoms of phacomatosis pigmentovascularis?

Characteristic signs and symptoms of phacomatosis pigmentovascularis (PPV), include port wine stain and pigmentary lesions. The port wine stain and pigmentary lesions are often extensive and can affect several areas of the body, including the face. Examples of associated pigmentary lesions, include:

Melanocytic nevi[1] 
Epidermal nevi[1]  

In addition to the port wine stain and pigmentary lesions, other skin lesions are not uncommon, such as:[2][1][3][4]

Nevus anemicus 
Cafe-au-lait spots
Mongolian spots
Nevus of Ota
Nevus of Ito

Nevus spilus

Around half of people with PPV have systemic involvement (i.e., other body systems are affected). Eye conditions such as ocular melanosis (also called ocular melanocytosis) is common. Ocular melanosis refers to a blue-gray pigmentation in the 'white of the eye' or sclerae. This condition often occurs along with nevus of Ota and may affect one or both eyes.[2] The complications of nevus of Ota are glaucoma and melanoma, as a result people with nevus of Ota require careful examination and follow-up by an opthamologist.[3] Other eye conditions reported in PPV include iris hamartomas, iris mammillations, and iris nodules.[3]

Some individuals with PPV also have Sturge-Weber syndrome or Klippel-Trenaunay syndrome. Signs and symptoms of Sturge-Weber syndrome include a large port-wine stain facial birthmark, blood vessel abnormalities in the brain called leptomeningeal angiomas, as well as glaucoma, seizures, muscle weakness, paralysis, developmental delay, and intellectual disability. Klippel-Trenaunay syndrome is characterized by a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations.

You can learn more about Sturge-Weber syndrome on our Web site at the following link:

You can learn more about Klippel-Trenaunay syndrome on the Genetic Home Reference Web site at the following link: 

A variety of other symptoms have been reported in individual cases of PPV (e.g., primary lymphedema, renal angiomas, moyamoya disease, scoliosis, malignant colonic polyposis, hypoplastic larynx, multiple granular cell tumors, and selective IgA deficiency).[4] Conditions associated with PPV can vary greatly from person to person and can be difficult to predict.
Last updated: 5/26/2011

  1. Moutray T, Napier M, Shafiq A, Fryer A, Rankin S, Willoughby CE. Monozygotic twins discordant for phacomatosis pigmentovascularis: evidence for the concept of twin spotting. Am J Med Genet A. 2010 Mar;
  2. Fernández-Guarino M, Boixeda P, de Las Heras E, Aboin S, García-Millán C, Olasolo PJ. Phakomatosis pigmentovascularis: Clinical findings in 15 patients and review of the literature. J Am Acad Dermatol.. 2008 Jan; Epub 2007 Nov 28;
  3. Chekroun-Le Du L et al.,. Phacomatosis pigmentovascularis type II. European Journal of Dermatology. 1998; Accessed 2/1/2011.
  4. Narchi H et al.,. Picture of the month. Arch Pediatr Adolesc Med. 2001; Accessed 2/1/2011.