The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormality of the dentition | Very frequent (present in 80%-99% of cases) |
| Arthralgia | Very frequent (present in 80%-99% of cases) |
| Cognitive impairment | Very frequent (present in 80%-99% of cases) |
| Conjunctival telangiectasia | Very frequent (present in 80%-99% of cases) |
| Cutaneous photosensitivity | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Dry skin | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Failure to thrive | Very frequent (present in 80%-99% of cases) |
| Fatigue | Very frequent (present in 80%-99% of cases) |
| Fever | Very frequent (present in 80%-99% of cases) |
| Freckling | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Very frequent (present in 80%-99% of cases) |
|
| Optic atrophy | Very frequent (present in 80%-99% of cases) |
| Poikiloderma | Very frequent (present in 80%-99% of cases) |
| Telangiectasia of the skin | Very frequent (present in 80%-99% of cases) |
| Thin skin | Very frequent (present in 80%-99% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Cryptorchidism | Frequent (present in 30%-79% of cases) |
| Dermal atrophy | Frequent (present in 30%-79% of cases) |
| Erythema | Frequent (present in 30%-79% of cases) |
| Hyperkeratosis | Frequent (present in 30%-79% of cases) |
| Hypermelanotic macule | Frequent (present in 30%-79% of cases) |
| Hypopigmented skin patches | Frequent (present in 30%-79% of cases) |
| Keratitis | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Papilloma | Frequent (present in 30%-79% of cases) |
| Sensorineural hearing impairment | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Abnormality of extrapyramidal motor function | Occasional (present in 5%-29% of cases) |
| Alopecia | Occasional (present in 5%-29% of cases) |
| Aminoaciduria | Occasional (present in 5%-29% of cases) |
| Ankyloblepharon | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Blepharitis | Occasional (present in 5%-29% of cases) |
| Cerebral cortical atrophy | Occasional (present in 5%-29% of cases) |
| Craniofacial hyperostosis | Occasional (present in 5%-29% of cases) |
| Decreased testicular size | Occasional (present in 5%-29% of cases) |
| Delayed skeletal maturation | Occasional (present in 5%-29% of cases) |
| Ectropion | Occasional (present in 5%-29% of cases) |
| Entropion | Occasional (present in 5%-29% of cases) |
| Flat nasal alae | Occasional (present in 5%-29% of cases) |
| Melanocytic nevus | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Occasional (present in 5%-29% of cases) |
|
| Opacification of the corneal stroma | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Photophobia | Occasional (present in 5%-29% of cases) |
| Pterygium | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Occasional (present in 5%-29% of cases) |
|
| - | |
| Choreoathetosis | - |
| Conjunctivitis | - |
| Defective |
- |
| Hyporeflexia | - |
| Intellectual disability | - |
| Mental deterioration | - |
| Telangiectasia | - |
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
More detailed information about the treatment of XP may be accessed through the following online resources:
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.
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.
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.
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.
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American Society for Microbiology (ASM) Conference on DNA Repair and Mutagenesis Saturday, May 30, 2009 -
Friday, June 5, 2009
Location: Fairmont Chateau Whistler,
British Columbia,
Canada
Description: The major goals of this conference were to disseminate novel, unpublished results; identify new technologies and clinical therapies; and foster new collaborations among participants. A hallmark of this conference is the exceptionally broad cross-section of participants in terms of research focus (basic, translational, and clinical), age (the large meeting venue draws many younger scientists, graduate students, and senior investigators; ASM committed $20,000 to subsidize graduate student travel), institutional affiliation (academia, government, private industry, and publishing), and geography. Numerous opportunities were provided for in-depth discussion during and after sessions and at meals, including the popular evening poster sessions to promote informal interactions among all participants.
Contact: Dr. Peggy Hsieh, NIDDK 301-496-0306
Co-funding Institute(s): National Institute of Diabetes and Digestive and Kidney Diseases
- 266KB)
Xeroderma Pigmentosum and other Diseases of Human Premature Aging and DNA Repair: Molecules to Patients Tuesday, September 5, 2006
Location: National Conference Center,
Lansdowne,
VA
Description: This meeting was a follow-up of one held in 2004. The purpose of this workshop was to gather leading scientists and clinicians in this very active area of research. The clinical and mechanistic aspects of Cowden's syndrome (CS) and related DNA repair/transcription defective disorders such as xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) were explored. Our goals were to develop new multidisciplinary collaborations, interactions, and relationships that can lead to a greater understanding of the pathophysiological mechanisms involved in these disorders and to conceive new therapeutic strategies for their treatment.
Contact: Dr. Vilhelm A. Bohr(301) 558-8223
Co-funding Institute(s): National Institute on Aging
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It there a cure for xeroderma pigmentosum? If there's no cure, can it at least be treated? See answer
