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Disease Profile
Xeroderma pigmentosum
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.
0
Age of onset
All ages
ICD-10
Q82.1
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)
XP; Xeroderma pigmentosa
Categories
Congenital and Genetic Diseases; Nervous System Diseases; Rare Cancers;
Summary
Xeroderma pigmentosum (XP) causes the skin and eyes to be extra sensitive to exposure to
Symptoms
Symptoms of XP may include:[1][2][3]
- Skin and eyes extra sensitive to
ultraviolet radiation - Severe sunburn with blistering
- Patches of dark or light colored skin (hyperor hypopigmentation)
- Dry skin and eyes
- Corneal clouding
- Corneal swelling
Microcephaly Hearing loss - Progressive mental impairment
Symptoms of XP start in childhood. Many people with XP develop severe sunburns and blistering with minimal sun exposure. Others may have changes in skin coloring and texture. Sun exposure can also damage the eyes. About one-fourth of people with XP have neurological problems that may get worse over time. People with XP are at very high risk of developing skin
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 | ||
Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] |
0000164 |
Arthralgia |
Joint pain
|
0002829 |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
Conjunctival telangiectasia |
Small dilated blood vessels near membrane covering front of eye and eyelids
|
0000524 |
Cutaneous photosensitivity |
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity
[ more ] |
0000992 |
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
Dry skin | 0000958 | |
0002353 | ||
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
Fever | 0001945 | |
Freckling | 0001480 | |
Decreased activity of gonads
|
0000135 | |
Mental retardation, progressive
Progressive mental retardation
[ more ] |
0006887 | |
Optic atrophy | 0000648 | |
Poikiloderma | 0001029 | |
Telangiectasia of the skin | 0100585 | |
Thin skin | 0000963 | |
30%-79% of people have these symptoms | ||
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Dermal atrophy |
Skin degeneration
|
0004334 |
Erythema | 0010783 | |
Hyperkeratosis | 0000962 | |
Hypermelanotic macule |
Hyperpigmented spots
|
0001034 |
Hypopigmented skin patches |
Patchy loss of skin color
|
0001053 |
Keratitis |
Corneal inflammation
|
0000491 |
0002861 | ||
Papilloma | 0012740 | |
Sensorineural hearing impairment | 0000407 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
5%-29% of people have these symptoms | ||
Abnormality of extrapyramidal motor function | 0002071 | |
Alopecia |
Hair loss
|
0001596 |
Aminoaciduria |
High urine amino acid levels
Increased levels of animo acids in urine
[ more ] |
0003355 |
Ankyloblepharon |
Adhesion of eyelids
Eyelids stuck together
[ more ] |
0009755 |
0001251 | ||
Blepharitis |
Inflammation of eyelids
|
0000498 |
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
Craniofacial hyperostosis |
Excessive bone growth of the skull and face
|
0004493 |
Decreased testicular size |
Small testes
Small testis
[ more ] |
0008734 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
Ectropion |
Eyelid turned out
|
0000656 |
Entropion |
Eyelid turned in
|
0000621 |
Flat nasal alae | 0010649 | |
Melanocytic nevus |
Beauty mark
|
0000995 |
Microcephaly |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 |
Eye tumor
|
0100012 | |
Opacification of the corneal stroma | 0007759 | |
0009830 | ||
Photophobia |
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ] |
0000613 |
Pterygium | 0001059 | |
Reduced tendon reflexes | 0001315 | |
0001250 | ||
Decreased body height
Small stature
[ more ] |
0004322 | |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 |
Treatment
Specialists involved in the care of someone with XP may include:[1]
Dermatologist Ophthalmologist Oncologist Neurologist Audiologist Otolaryngologist Medical geneticist
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 trichothiodystrophy, Cockayne syndrome, cerebrooculofacioskeletal syndrome (COFS), UV-sensitive syndrome, erythropoietic protoporphyria, and Rothmund-Thomson syndrome (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
-
Xeroderma Pigmentosum Society, Inc (XP Society)
437 Syndertown Road
Craryville, NY 12521
Toll-free: 877-XPS-CURE (877-977-2873)
Telephone: 518 929-2174
E-mail: [email protected]
Website: https://www.xps.org -
XP Family Support Group
10259 Atlantis Drive
Elk Grove, CA 95826
Telephone: 916-628-3814
E-mail: [email protected]
Website: https://www.xpfamilysupport.org/ -
XP Light of Hope Group (XP Grupo Luz de Esperanza)
P.O. Box 256
Waterford, CT 06385-0256
Telephone: 1-860-333-8715
E-mail: [email protected]
Website: https://www.XPLightofHopeGroup.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
- 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 Xeroderma pigmentosum. This website is maintained by the National Library of Medicine.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- 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
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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.
- 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 Xeroderma pigmentosum. Click on the link to view a sample search on this topic.
References
- Kraemer KH, DiGiovanna JJ. Xeroderma Pigmentosum. GeneReviews. Updated Sep 29, 2016; https://www.ncbi.nlm.nih.gov/books/NBK1397.
- Lucero R, Horowitz D. Xeroderma Pigmentosum. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing. Updated July 11, 2020; https://www.ncbi.nlm.nih.gov/books/NBK551563.
- Lehmann J, Seebode C, Martens MC, Emmert S. Xeroderma Pigmentosum Facts and Perspectives. Anticancer Res. Feb 2018; 38(2):1159-1164. https://pubmed.ncbi.nlm.nih.gov/29374753.
- Moriwaki S, Kanda F, Hayashi M, Yamashita D, Sakai Y, Nishigori C. Xeroderma pigmentosum clinical practice guidelines revision committee. Xeroderma pigmentosum clinical practice guidelines. J Dermatol. Oct, 2017; 44(10):1087-1096. https://pubmed.ncbi.nlm.nih.gov/28771907.
- Black JO. Xeroderma Pigmentosum. Head Neck Pathol. Jun 2016; 10(2):139-44. https://pubmed.ncbi.nlm.nih.gov/26975629.
- Walsh MF, Chang VY, Kohlmann WK, Scott HS, Cunniff C, at al. Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders. Clin Cancer Res.. Jun 1, 2017; 23(11):e23-e31. https://pubmed.ncbi.nlm.nih.gov/28572264.
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