Xeroderma pigmentosum

Title

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) 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

Symptoms 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.

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

Last updated: 11/1/2018

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

Treatment Treatment

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:

GeneReviews: Management
Medscape Reference - Treatment & Medication

Last updated: 6/24/2016

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 Genetics Home Reference.

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.
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

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: 518-851-2612
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 Support Group
Instron House
Coronation Road
High Wycombe
Bucks
HP12 3SY
United Kingdom
Telephone: 01494 456192 or 01494 459888
E-mail: info@xpsupportgroup.org.uk
Website: http://www.xpsupportgroup.org.uk

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

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.
The Clinical Center at the National Institutes of Health (NIH) has published an online information page about xeroderma pigmentosum. Visit the above link to access this information.

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.

News & Events News & Events

News

The NIH Undiagnosed Diseases Network Expands
September 26, 2018

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