Xeroderma pigmentosum

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Other Names:

XP; Xeroderma pigmentosa

Categories:

Congenital and Genetic Diseases; Nervous System Diseases; Rare Cancers; Congenital and Genetic Diseases; Nervous System Diseases; Rare Cancers; Skin Diseases See More

Summary Summary

Xeroderma pigmentosum (XP) causes the skin and eyes to be extra sensitive to exposure to ultraviolet radiation from the sun and other sources. Symptoms begin in early childhood. People with XP can develop bad sunburns, blistering, and freckling in response to sunlight. The eyes may develop light sensitivity, corneal clouding, and swelling. Some people with XP have nervous system involvement as well. People with XP are at very high risk of developing skin cancer and other types of cancers. XP is caused by variants in one of at least nine genes involved in repairing damaged DNA. XP is inherited in an autosomal recessive pattern. Diagnosis is based on the clinical findings and specialized testing on skin cells. The diagnosis can be confirmed by the results of genetic testing. Treatment is focused on managing the symptoms. This includes avoiding sun exposure and performing frequent screenings for skin cancer and other cancers.^[1]^[2]^[3]

Last updated: 10/6/2020

Symptoms Symptoms

The following list includes the most common signs and symptoms in people with xeroderma pigmentosum (XP). These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

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 (hyper- or 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 cancer and other types of cancers. Most people with XP will get some type of cancer by early adulthood.^[2]^[3]

Last updated: 10/6/2020

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.

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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
Developmental regression	Loss of developmental milestones Mental deterioration in childhood [ more ]	0002376
Dry skin		0000958
EEG abnormality		0002353
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Fatigue	Tired Tiredness [ more ]	0012378
Fever		0001945
Freckling		0001480
Hypogonadism	Decreased activity of gonads	0000135
Intellectual disability, progressive	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
Cataract	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
Melanoma		0002861
Papilloma		0012740
Sensorineural hearing impairment		0000407
Strabismus	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
Ataxia		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
Neoplasm of the eye	Eye tumor	0100012
Opacification of the corneal stroma		0007759
Peripheral neuropathy		0009830
Photophobia	Extreme sensitivity of the eyes to light Light hypersensitivity [ more ]	0000613
Pterygium		0001059
Reduced tendon reflexes		0001315
Seizure		0001250
Short stature	Decreased body height Small stature [ more ]	0004322
Spasticity	Involuntary muscle stiffness, contraction, or spasm	0001257

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2021

Cause Cause

Xeroderma pigmentosum is caused by the DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, or XPC gene not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.^[1]

Last updated: 10/6/2020

Inheritance Inheritance

Xeroderma pigmentosum is inherited in an autosomal recessive pattern.^[1] All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must be altered to have the condition.

People with autosomal recessive conditions inherit one alteration from each of their parents. The parents, who each have one gene alteration, are known as carriers. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, there is a 25% (1 in 4) chance to have a child with the condition.

Last updated: 10/6/2020

Diagnosis Diagnosis

Xeroderma pigmentosum (XP) is diagnosed based on the symptoms and clinical exam and may be confirmed by the results of genetic testing. Specialized testing may be done on skin cells to check for sensitivity to ultraviolet radiation.^[2]^[3]

Last updated: 10/6/2020

Treatment Treatment

Treatment for xeroderma pigmentosum (XP) is focused on managing the symptoms. People with XP are advised to avoid cigarette smoke, sunlight, and other forms of ultraviolet radiation exposure. In addition, people with XP may need regular screening for cancer, which may include a skin biopsy.^[1] Clinical guidelines have been published for managing the symptoms of xeroderma pigmentosum.^[4]

Specialists involved in the care of someone with XP may include:^[1]

Dermatologist
Ophthalmologist
Oncologist
Neurologist
Audiologist
Otolaryngologist
Medical geneticist

Last updated: 10/6/2020

Statistics Statistics

It has been estimated that about one in 1,000,000 people in the United States has xeroderma pigmentosum (XP). The number of people with XP is higher in Japan and other parts of the world.^[1]

Last updated: 10/6/2020

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Related Diseases 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.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Xeroderma pigmentosum. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations 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: xps@xps.org
Website: http://www.xps.org
XP Family Support Group
10259 Atlantis Drive
Elk Grove, CA 95826
Telephone: 916-628-3814
E-mail: contact@xpfamilysupport.org
Website: http://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: info@xpgrupoluzdeesperanza.org
Website: http://www.XPLightofHopeGroup.org/

Do you know of an organization? We want to hear from you.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More 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.

News & Events News & Events

News

Rare Disease Day at NIH 2021
March 1, 2021

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References 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.