National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Xeroderma pigmentosum

Xeroderma pigmentosum (XP) is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system. Symptoms typically develop by the time a child is 2 years old.[1][2][3] Xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged DNA.[1][2] Inherited mutations in at least nine genes have been identified.[2] The condition is inherited in an autosomal recessive manner.[1][2] People with XP need total protection from sunlight. This includes protective clothing, sunscreen, and dark sunglasses when out in the sun. To prevent skin cancer, medications like retinoid creams may be prescribed. Skin cancers that do develop should be treated using standard practices.[3]
Last updated: 6/24/2016

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
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Choreoathetosis 0001266
Conjunctivitis
Pink eye
0000509
Defective DNA repair after ultraviolet radiation damage 0003079
Hyporeflexia
Decreased reflex response
Decreased reflexes
[ more ] 		0001265
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Mental deterioration
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ] 		0001268
Telangiectasia 0001009
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Last updated: 7/1/2020
There is no cure for XP, but there are ways to prevent and treat some of the problems associated with it. Some of the strategies employed in the management of XP include:[2][3][4]   
  • Protection from ultraviolet light
  • Frequent skin and eye examinations
  • Prompt removal of cancerous tissue
  • Neurological examination
  • Psychosocial care

Small, premalignant skin lesions such as actinic keratoses can be frozen with liquid nitrogen. Larger areas of sun-damaged skin can be treated with topical 5-fluorouracil or imiquimod. In rare cases, therapeutic dermatome shaving or dermabrasion is used to remove damaged superficial epidermal layers. Skin cancers can be treated using standard treatment protocols, including electrodesiccation and curettage (scrapes away the lesion and uses electricity to kill any remaining cells), surgical excision, or chemosurgery. High dose oral isotretinoin or acitretin can be used to prevent new cancers. Cancers of the eyelids, conjunctiva, and cornea are usually treated surgically. Corneal transplantation may be necessary for those with severe keratitis and corneal opacity.[2]

More detailed information about the treatment of XP may be accessed through the following online resources:

Last updated: 6/24/2016

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

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 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.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Patient Registry

  • Xeroderma Pigmentosum Registry 
    Univ of Medicine and Dentistry of NJ
    Department of Path
    Med Sci Bldg Rm C-520
    185 S Orange Ave
    Newark NJ 07103-2714
    Phone #: 973-972-4405

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

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

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

  • Genetics Home Reference (GHR) contains information on Xeroderma pigmentosum. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • 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.
  • 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 Xeroderma pigmentosum. Click on the link to view a sample search on this topic.

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. Submit a new question

  • It there a cure for xeroderma pigmentosum? If there's no cure, can it at least be treated? See answer


  1. Xeroderma pigmentosum. Genetics Home Reference (GHR). May 2010; http://ghr.nlm.nih.gov/condition/xeroderma-pigmentosum.
  2. Kenneth H Kraemer and John J DiGiovanna. Xeroderma Pigmentosum. GeneReviews. February 13, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1397/.
  3. Berman K. Xeroderma pigmentosum. MedlinePlus. April 14, 2015; https://www.nlm.nih.gov/medlineplus/ency/article/001467.htm.
  4. Understanding Xeroderma Pigmentosum. NIH Clinical Center. 2006; http://www.cc.nih.gov/ccc/patient_education/pepubs/xp7_17.pdf.