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Genetic and Rare Diseases Information Center (GARD)

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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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Your Question

My son has been diagnosed with phacomatosis pigmentovascularis. Can you provide me with further information on this condition?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is phacomatosis pigmentovascularis?

Phacomatosis pigmentovascularis (PPV) is a skin and blood vessel disorder that is present from birth. Common signs and symptoms include port wine stain and pigmentary lesions, such as melanocytic nevi or epidermal nevi.[1] A variety of classification systems have been proposed for PPV, largely depending on what type of pigmentary lesion is present. Around half of individuals with PPV have systemic disease, meaning that body systems other than the skin are affected.[2] Systemic symptoms can vary greatly from person to person. PPV is not inherited, but is thought to be caused by a genetic phenomenon called twin spotting.[2][1][3][4]
Last updated: 2/1/2011

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:
http://rarediseases.info.nih.gov/GARD/Condition/7706/Sturge_Weber_syndrome.aspx

You can learn more about Klippel-Trenaunay syndrome on the Genetic Home Reference Web site at the following link:
http://ghr.nlm.nih.gov/condition/klippel-trenaunay-syndrome 

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

What causes phacomatosis pigmentovascularis?

Phacomatosis pigmentovascularis (PPV) is thought to occur as a result of a change in the arrangement of a small piece of genetic material in a developing embryo. Because of this change some of the baby's body cells carry two copies of recessive gene mutations while the majority of his or her body cells carry only one. Having two copies of the recessive gene mutations result in a diseased cell (and symptoms of PPV). This phenomenon is called twin spotting. PPV occurs by chance, it is not inherited, and affects only a subset of the body's cells. As a result risk to future offspring is very small.[1]
Last updated: 2/1/2011

How might phacomatosis pigmentovascularis be diagnosed?

Diagnosis of phacomatosis pigmentovascularis is based primarily on physical evaluation and appearence of the skin lesions.[2]
Last updated: 2/1/2011

How might phacomatosis pigmentovascularis be treated?

If phacomatosis pigmentovascularis (PPV) is not associated with systemic complications (e.g., Sturge-Weber syndrome, Klippel-Trenaunay syndrome, eye conditions) it requires no treatment, however pulsed dye laser may improve the appearance of port wine stains and Q-switched laser the appearance of pigmentary nevus.[2] Medical treatment of PPV with systemic complications requires individualized plans and often assistance from a team of specialists (e.g., opthamologist, neurologist, and vascular specialist).
Last updated: 2/1/2011

How many cases of phacomatosis pigmentovascularis have been reported in the medical literature?

Over 222 cases of phacomatosis pigmentovascularis have been described in the medical literature.[2] Many of these cases have been described in individuals of Japanese ancestry.[2][1]
Last updated: 10/18/2013

References
  • 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;
  • 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;
  • Chekroun-Le Du L et al.,. Phacomatosis pigmentovascularis type II. European Journal of Dermatology. 1998; http://www.john-libbey-eurotext.fr/en/print/e-docs/00/01/87/6B/article.phtml. Accessed 2/1/2011.
  • Narchi H et al.,. Picture of the month. Arch Pediatr Adolesc Med. 2001; http://archpedi.ama-assn.org/cgi/content/full/155/2/191. Accessed 2/1/2011.