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Disease Profile

Phacomatosis pigmentovascularis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Neonatal

ICD-10

Q85.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Association of cutaneous vascular malformations and different pigmentary disorders; PPV; Phakomatosis pigmentovascularis

Summary

Phacomatosis pigmentovascularis (PPV) is a disorder characterized by the co-existence of vascular and pigmentary birthmarks.[1] Signs and symptoms may include port wine stainmelanocytic nevi (commonly known as moles), epidermal nevi, dermal melanocytosis (areas of blue-gray discoloration), nevus spilus, and patches of hyperpigmentation (areas of darker skin). Other skin features may include nevus anemicus (areas of lighter skin) and café au lait spots.[2] About half of people with PPV have systemic involvement, which means they have features affecting other areas of the body. People with systemic involvement may have neurologic, ocular (eye), or muscular abnormalities.[2][3] Several subtypes of PPV have been identified which are generally distinguished based on the specific type(s) of skin features present.[1][2]

Isolated PPV is typically a sporadic disorder that occurs for the first time in people with no family history of PPV.[4] Researchers have found that PPV can be caused by a somatic mutation in the GNA11 or GNAQ gene that is present only in the affected tissues of the body. These mutations are not present in the blood or in unaffected tissues, which means the disorder is likely due to noninherited mutations that are randomly acquired after conception. In some cases of isolated PPV, the underlying cause remains unknown.[1]

Treatment and long-term outlook (prognosis) of PPV largely depends whether there is systemic involvement and which body parts or organ systems are affected.[3][4] Isolated PPV without systemic involvement typically does not require treatment. However, large skin lesions may cause problems with body image and self-esteem, so laser treatments may be considered to improve the appearance of skin lesions.[5][6]

Symptoms

Characteristic signs and symptoms of phacomatosis pigmentovascularis (PPV) involving the skin include port wine stain and various pigmentary lesions (lesions that are brown, black or blue in color). The port wine stain and pigmentary lesions may be extensive, affecting several areas of the body, including the face. Examples of associated pigmentary lesions include:[2][3]

Around half of people with PPV have systemic involvement (i.e., body systems other than the skin are affected). Eye conditions such as ocular melanosis (also called ocular melanocytosis) are common. Ocular melanosis refers to a blue-gray pigmentation in the white of the eye (the sclerae). This condition often occurs along with nevus of Ota and may affect one or both eyes.[5] Complications of nevus of Ota include glaucoma and melanoma, so people with nevus of Ota require careful examination and follow-up by an ophthalmologist.[7] Other eye conditions reported in PPV include iris hamartomas, iris mammillations, and iris nodules.[7] When neurologic abnormalities are present they usually become apparent in the first few months of life and may include developmental delay, seizures, intracranial calcifications (calcium deposits within the brain), or cerebral atrophy.[3] Some people with PPV also have Sturge-Weber syndrome or Klippel-Trenaunay syndrome, each of which causes various signs and symptoms.[8]

A variety of other signs or 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).[9] Signs and symptoms associated with PPV can vary greatly from person to person and can be difficult to predict.

Treatment

If phacomatosis pigmentovascularis (PPV) is not associated with systemic complications (e.g., Sturge-Weber syndrome, Klippel-Trenaunay syndrome, neurological problems, or eye conditions) it typically does not require treatment. However, because large skin lesions may cause problems with body image and self-esteem, parents of children with PPV, or adults with PPV, may consider laser treatments to improve the appearance of skin lesions.[5][6] Congenital lesions may grow in proportion with the body, so treatment as early as possible in children with PPV may be recommended to reduce the number of treatments needed and avoid self-esteem problems in future years.[6] Medical treatment for systemic complications depends on the signs and symptoms present in each person and may require an individualized treatment plan involving a team of specialists in ophthalmology, neurology, and/or vascular surgery.

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      In-Depth Information

      • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Phacomatosis pigmentovascularis. Click on the link to view a sample search on this topic.

        References

        1. Thomas AC, Zeng Z, Rivière JB, et al. Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis. J Invest Dermatol. April, 2016; 136(4):770-778. https://www.ncbi.nlm.nih.gov/pubmed/26778290.
        2. Galbraith S. Capillary malformations (port wine stains) and associated syndromes. UpToDate. Waltham, MA: UpToDate; November, 2016; https://www.uptodate.com/contents/capillary-malformations-port-wine-stains-and-associated-syndromes.
        3. Diaz LZ. Vascular lesions in the newborn. UpToDate. Waltham, MA: UpToDate; April, 2018; https://www.uptodate.com/contents/vascular-lesions-in-the-newborn.
        4. Nanda A, Al-Abdulrazzaq HK, Habeeb YK, Zakkiriah M, Alghadhfan F, Al-Noun R, Al-Ajmi H. Phacomatosis pigmentovascularis: Report of four new cases.. Send to Indian J Dermatol Venereol Leprol. May-June, 2016; 82(3):298-303. https://www.ncbi.nlm.nih.gov/pubmed/27088932.
        5. 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;
        6. Kono T, Erçöçen AR, Chan HH, Kikuchi Y, Hori K, Uezono S, Nozaki M. Treatment of phacomatosis pigmentovascularis: a combined multiple laser approach. Dermatol Surg. June, 2003; 29(6):642-646. https://www.ncbi.nlm.nih.gov/pubmed/12786710.
        7. Chekroun-Le Du L et al.,. Phacomatosis pigmentovascularis type II. European Journal of Dermatology. 1998; https://www.john-libbey-eurotext.fr/en/print/e-docs/00/01/87/6B/article.phtml. Accessed 2/1/2011.
        8. Sen S, Bala S, Halder C, Ahar R, Gangopadhyay A. Phakomatosis pigmentovascularis presenting with sturge-weber syndrome and klippel-trenaunay syndrome. Indian J Dermatol. January-February, 2015; 60(1):77-79. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4318068/.
        9. Narchi H et al.,. Picture of the month. Arch Pediatr Adolesc Med. 2001; https://archpedi.ama-assn.org/cgi/content/full/155/2/191. Accessed 2/1/2011.

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