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Disease Profile
Giant congenital nevus
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.
1-9 / 100 000
Age of onset
Infancy
ICD-10
Q82.5
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)
GPHN; Giant pigmented hairy nevus; Giant pigmented nevus;
Categories
Congenital and Genetic Diseases; Rare Cancers; Skin Diseases
Summary
A giant
Whenever possible, treatment includes surgery to remove the nevus. In other cases other treatment such as dermabrasion, shaving or facial excision, chemical peels and laser can be done. In most cases, when there are no neurological problems, the
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Giant pigmented mole
|
0005600 | |
30%-79% of people have these symptoms | ||
Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
5%-29% of people have these symptoms | ||
Cutaneous |
0012056 | |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hypopigmented skin patches |
Patchy loss of skin color
|
0001053 |
Pruritus |
Itching
Itchy skin
Skin itching
[ more ] |
0000989 |
Rhabdomyosarcoma | 0002859 | |
0001250 | ||
Subcutaneous nodule |
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] |
0001482 |
Percent of people who have these symptoms is not available through HPO | ||
Broad forehead |
Increased width of the forehead
Wide forehead
[ more ] |
0000337 |
Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ] |
0000455 |
Congenital onset |
Symptoms present at birth
|
0003577 |
Deep philtrum | 0002002 | |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] |
0000293 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Long philtrum | 0000343 | |
Narrow nasal ridge |
Decreased width of nasal ridge
Pinched nose
Thin nasal ridge
[ more ] |
0000418 |
Nevus spilus | 0025510 | |
Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ] |
0000194 |
Periorbital fullness |
Puffiness around eye
|
0000629 |
Prominence of the premaxilla |
Anterior position of the premaxilla
Anterior position of the primary palate bone
Prominence of the primary palate bone
[ more ] |
0010759 |
Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ] |
0011220 |
Round face |
Circular face
Round facial appearance
Round facial shape
[ more ] |
0000311 |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
0001428 |
Treatment
When surgery is not possible, other treatment may include procedures such as curettage, dermabrasion, and ablative laser therapy which may be used for superficial skin imperfections, including reducing pigment and hair, but cannot completely remove the nevus.[2][3][5][4]
Affected individuals should self-monitor and continue to have regular skin examinations to check for benign or malignant
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnoses include atypical mole, Becker's nevus syndrome, malignant melanoma, nevus of Ota, nevus of Ito, Spitz nevus, blue nevus, and congenital smooth muscle hamartome (see these terms).
Visit the Orphanet disease page for more information.
|
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
-
Birth Defect Research for Children, Inc.
976 Lake Baldwin Lane, Suite 104
Orlando, FL 32814
Telephone: +1-407-895-0802
E-mail: staff@birthdefects.org
Website: https://www.birthdefects.org/ -
Nevus Network
PO Box 305
West Salem, OH 44287
Telephone: (419) 853-4525 or (405) 377-3403
E-mail: info@nevusnetwork.org
Website: https://www.nevusnetwork.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
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.
Where to Start
- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Giant congenital nevus. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
Congenital Hairy Nevi Plastic Surgery
Congenital Nevi Dermatology - 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.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Giant congenital nevus. Click on the link to view a sample search on this topic.
References
- Congenital melanocytic naevi. DermNet NZ. 2017; https://dermnetnz.org/lesions/congenital-naevus.html.
- Kinsler V, Etchevers H & Price H. All About Congenital Melanocytic Nevi. Naevus Global. https://www.naevusglobal.org/naevus-global-english_id93.html.
- Giant Congenital Melanocytic Nevus. National Organization for Rare Diseases (NORD). 2013; https://rarediseases.org/rare-diseases/giant-congenital-melanocytic-nevus/.
- Hunt R, Shaffer JV & Bolognia JK. Congenital melanocytic nevi. UpToDate. August 23, 2017; https://www.uptodate.com/contents/congenital-melanocytic-nevi.
- Schwartz RA. Congenital Nevi Treatment & Management Updated. Medscape Reference. June 05, 2017; https://emedicine.medscape.com/article/1118659-overview.
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