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 temperature regulation | 90% |
| Abnormality of the teeth | 90% |
| Arthralgia | 90% |
| Cognitive impairment | 90% |
| Conjunctival telangiectasia | 90% |
| Cutaneous photosensitivity | 90% |
| Developmental regression | 90% |
| Dry skin | 90% |
| EEG abnormality | 90% |
| Freckling | 90% |
| Optic atrophy | 90% |
| Poikiloderma | 90% |
| Telangiectasia of the skin | 90% |
| Thin skin | 90% |
| Cataract | 50% |
| Cryptorchidism | 50% |
| Hyperkeratosis | 50% |
| Hypermelanotic macule | 50% |
| Hypopigmented skin patches | 50% |
| Melanoma | 50% |
| Sensorineural hearing impairment | 50% |
| Strabismus | 50% |
| Verrucae | 50% |
| Abnormality of extrapyramidal motor function | 7.5% |
| Abnormality of the palpebral fissures | 7.5% |
| Alopecia | 7.5% |
| Aminoaciduria | 7.5% |
| Blepharitis | 7.5% |
| Cerebral cortical atrophy | 7.5% |
| Craniofacial hyperostosis | 7.5% |
| Delayed skeletal maturation | 7.5% |
| Hypertonia | 7.5% |
| Incoordination | 7.5% |
| Melanocytic nevus | 7.5% |
| Microcephaly | 7.5% |
| Neoplasm of the eye | 7.5% |
| Neoplasm of the oral cavity | 7.5% |
| Opacification of the corneal stroma | 7.5% |
| Peripheral neuropathy | 7.5% |
| Photophobia | 7.5% |
| Pterygium | 7.5% |
| Seizures | 7.5% |
| Short stature | 7.5% |
| Ataxia | - |
| Autosomal recessive inheritance | - |
| Choreoathetosis | - |
| Conjunctivitis | - |
| Defective DNA repair after ultraviolet radiation damage | - |
| Dermal atrophy | - |
| Ectropion | - |
| Entropion | - |
| Hyporeflexia | - |
| Intellectual disability | - |
| Keratitis | - |
| Mental deterioration | - |
| Spasticity | - |
| 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 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:
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their 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.
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
