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Disease Profile
Phacomatosis pigmentovascularis
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.
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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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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 stain, melanocytic 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
Treatment and long-term outlook (
Symptoms
- Melanocytic nevi (commonly known as moles)
- Epidermal nevi
- Nevus anemicus (areas of lighter skin)
- Hyperpigmentation (areas of darker skin)
- Cafe-au-lait spots
- Dermal melanocytosis (areas of blue-gray discoloration)
- Nevus of Ota
- Nevus of Ito
- Nevus spilus
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
A variety of other signs or symptoms have been reported in individual cases of PPV (e.g., primary lymphedema, renal angiomas, moyamoya disease,
Treatment
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
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Children's Glaucoma Foundation
2 Longfellow Place
Suite 201
Boston, MA 02114
Telephone: 617-227-3011
Website: https://www.childrensglaucomafoundation.org -
Glaucoma Research Foundation
251 Post Street, Suite 600
San Francisco, CA 94108
Toll-free: 800-826-6693
Telephone: 415-986-3162
Fax: 415-986-3763
E-mail: [email protected]
Website: https://www.glaucoma.org -
Nevus Outreach, Inc.
600 SE Delaware Ave., Suite 200
Bartlesville, OK 74003
Telephone: +1-918-331-0595
E-mail: https://www.nevus.org/contact-nevus-outreach
Website: https://www.nevus.org -
Vascular Birthmarks Foundation (VBF)
PO Box 106
Latham
NY 12110
Telephone: (877) VBF-4646
E-mail: [email protected]
Website: https://birthmark.org/
Organizations Providing General Support
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National Organization of Vascular Anomalies (NOVA)
PO Box 38216
Greensboro, NC 27438-8216
E-mail: [email protected]
Website: https://www.novanews.org
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
- 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.
- 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.
- Diaz LZ. Vascular lesions in the newborn. UpToDate. Waltham, MA: UpToDate; April, 2018; https://www.uptodate.com/contents/vascular-lesions-in-the-newborn.
- 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.
- 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;
- 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.
- 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.
- 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/.
- 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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