Skip to main content
U.S. Department of Health & Human Services
National Institutes of Health
NCATS

COVID-19 is an emerging, rapidly evolving situation.

Get the latest public health information from CDC: https://www.coronavirus.gov (link is external)
Get the latest research information from NIH: https://covid19.nih.gov (link is external)

National Center for Advancing and Translational Sciences National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences
1-888-205-2311
Menu Search
1-888-205-2311
Menu
  • Home
  • Diseases expand submenu for Diseases
    • Browse A-Z
    • Find Diseases By Category expand submenu for Find Diseases By Category
      • Autoimmune / Autoinflammatory diseases
      • Bacterial infections
      • Behavioral and mental disorders
      • Blood Diseases
      • Chromosome Disorders
      • Congenital and Genetic Diseases
      • Connective tissue diseases
      • Digestive Diseases
      • Ear, Nose, and Throat Diseases
      • Endocrine Diseases
      • Environmental Diseases
      • Eye diseases
      • Female Reproductive Diseases
      • Fungal infections
      • Heart Diseases
      • Hereditary Cancer Syndromes
      • Immune System Diseases
      • Kidney and Urinary Diseases
      • Lung Diseases
      • Male Reproductive Diseases
      • Metabolic disorders
      • Mouth Diseases
      • Musculoskeletal Diseases
      • Myelodysplastic Syndromes
      • Nervous System Diseases
      • Newborn Screening
      • Nutritional diseases
      • Parasitic diseases
      • Rare Cancers
      • RDCRN
      • Skin Diseases
      • Viral infections
    • List of FDA Orphan Drugs
    • GARD Information Navigator
    • FAQs About Rare Diseases
  • Guides expand submenu for Guides
    • Patients, Families and Friends expand submenu for Patients, Families and Friends
      • How to Find a Disease Specialist
      • Tips for the Undiagnosed
      • Support for Patients and Families
      • Tips for Finding Financial Aid
      • Help with Travel Costs
      • How to Get Involved in Research
      • FAQs About Chromosome Disorders
      • Medical and Science Glossaries
    • Healthcare Professionals expand submenu for Healthcare Professionals
      • Caring for Your Patient with a Rare Disease
      • ICD Coding for Rare Diseases
      • FindZebra Diagnosis Assist Tool
    • Researchers expand submenu for Researchers
      • Finding Funding Opportunities
    • Teachers and Students expand submenu for Teachers and Students
      • Teaching Resources
  • News expand submenu for News
    • In The Spotlight
    • News Archive
    • Connect with GARD
    • Media Requests
  • About GARD expand submenu for About GARD
    • Contact GARD
    • About GARD
    • Videos
    • Brochures and Publications
  • En Español expand submenu for En Español
    • Enfermedades
    • Contacte GARD
    • Guías de Información expand submenu for Guías de Información
      • Preguntas Más Frecuentes Sobre Enfermedades Raras
      • Como Encontrar un Especialista en su Enfermedad
      • Consejos Para una Condición no Diagnosticada
      • Consejos Para Pacientes y Familias
      • Consejos Para Obtener Ayuda Financiera Para Una Enfermedad
      • Participe en Estudios de Investigación
      • Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos
    • Sobre GARD
  • Home
© Positive Exposure
banner showing people with disabilities and/or their relatives
  1. Home
  2. Diseases
  3. Xeroderma pigmentosum
print
  • Table of Contents expand submenu for Table of Contents
    • Summary
    • Symptoms
    • Cause
    • Inheritance
    • Diagnosis
    • Treatment
    • Statistics
    • Find a Specialist
    • Related Diseases
    • Research
    • Organizations
    • Living With
    • Learn More
    • News & Events
    • GARD Answers
    • References
  • Browse A-Z
  • Find Diseases By Category expand submenu for Find Diseases By Category
    • Autoimmune / Autoinflammatory diseases
    • Bacterial infections
    • Behavioral and mental disorders
    • Blood Diseases
    • Chromosome Disorders
    • Congenital and Genetic Diseases
    • Connective tissue diseases
    • Digestive Diseases
    • Ear, Nose, and Throat Diseases
    • Endocrine Diseases
    • Environmental Diseases
    • Eye diseases
    • Female Reproductive Diseases
    • Fungal infections
    • Heart Diseases
    • Hereditary Cancer Syndromes
    • Immune System Diseases
    • Kidney and Urinary Diseases
    • Lung Diseases
    • Male Reproductive Diseases
    • Metabolic disorders
    • Mouth Diseases
    • Musculoskeletal Diseases
    • Myelodysplastic Syndromes
    • Nervous System Diseases
    • Newborn Screening
    • Nutritional diseases
    • Parasitic diseases
    • Rare Cancers
    • RDCRN
    • Skin Diseases
    • Viral infections
  • List of FDA Orphan Drugs
  • GARD Information Navigator
  • FAQs About Rare Diseases
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

Xeroderma pigmentosum


Información en español Title


How can we make GARD better? We want to hear from you.
Provide Feedback

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


Listen
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


Listen
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.

Showing of 54 |
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
Showing of 54 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021

Cause Cause


Listen
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


Listen
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


Listen
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


Listen
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


Listen
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


Listen

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


Listen

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


Listen

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


Listen

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


Listen

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


Listen

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


Listen

News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


Listen

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Kraemer KH, DiGiovanna JJ. Xeroderma Pigmentosum. GeneReviews. Updated Sep 29, 2016; https://www.ncbi.nlm.nih.gov/books/NBK1397.
  2. 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.
  3. 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.
  4. 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.
  5. Black JO. Xeroderma Pigmentosum. Head Neck Pathol. Jun 2016; 10(2):139-44. https://pubmed.ncbi.nlm.nih.gov/26975629.
  6. 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.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

Share this content:

Share this content:

twitter-icon facebook-icon contact-icon link-icons

Copy Link

Link copied to your clipboard.

printer-icon

You May Be Interested In

How to Find a Disease Specialist

How to Find a Disease Specialist

Tips for the Undiagnosed

Tips for the Undiagnosed

Support for Patients and Families

Support for Patients and Families

Tips for Finding Financial Aid

Tips for Finding Financial Aid

Help with Travel Costs

Help with Travel Costs

How to Get Involved in Research

How to Get Involved in Research

FAQs About Chromosome Disorders

FAQs About Chromosome Disorders

Medical and Science Glossaries

Medical and Science Glossaries

Caring for Your Patient with a Rare Disease

Caring for Your Patient with a Rare Disease

ICD Coding for Rare Diseases

ICD Coding for Rare Diseases

FindZebra Diagnosis Assist Tool

FindZebra Diagnosis Assist Tool

Finding Funding Opportunities

Finding Funding Opportunities

Teaching Resources

Teaching Resources

placeholder for the horizontal scroll slider Back to top
GARD Home NCATS Home Site Map Browse Glossary A-Z Privacy Notice Disclaimer Accessibility FOIA OIG

If you have problems viewing PDF files, download the latest version of Adobe Reader

For language access assistance, contact the NCATS Public Information Officer

Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311

contact gard Office of Rare Disease Research Facebook Page Office of Rare Disease Research on Twitter
Listen