How is xeroderma pigmentosum causes

Inheritance Inheritance. Xeroderma pigmentosum is inherited in an autosomal recessive pattern. 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. Diagnosis Diagnosis. 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.

Treatment Treatment. 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. Statistics Statistics. It has been estimated that about one in 1,, 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. Do you have updated information on this disease? Find a Specialist Find a Specialist. 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.

You can also learn more about genetic consultations from MedlinePlus Genetics. Related Diseases Related Diseases. 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. Clinical Research Resources ClinicalTrials. Click on the link to go to ClinicalTrials. Please note: Studies listed on the ClinicalTrials. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study. Organizations Organizations. Organizations Supporting this Disease.

Do you know of an organization? Living With Living With. 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. 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. 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. 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.

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. Have a question? References References. Xeroderma Pigmentosum. Lucero R, Horowitz D. XP is a rare genetic disorder that causes sensitivity to UV light.

Symptoms of XP can affect the skin, eyes, and nervous system. Some, such as cognitive impairment, worsen over time.

The best way to manage XP symptoms is to avoid sunlight and other sources of UV light. People with the condition have an increased risk of cancer and need to attend regular screenings. A genetic disorder is a condition that occurs as a result of a mutation in DNA. There are many different types of genetic disorder. Learn more here. Solar urticaria is often confused for heat rash, but it does not occur due to humidity.

This is a type of distinct, circular bump that occurs due to…. Sun poisoning is a relatively uncommon condition similar to a sunburn. It is commonly referred to as photodermatitis. In addition to pain, swelling….

What is xeroderma pigmentosum XP? Outlook Consulting a doctor Summary Xeroderma pigmentosum is a rare genetic disorder that affects the skin, the eyes, and sometimes the nervous system. What is it? Relationship to cancer.

Management and prevention. Who does it affect? If you suspect XP, keeping a symptom diary can help you to get a diagnosis and the support you need. If you have a family history of XP, your doctor can determine your carrier status through a screening that uses a blood or saliva sample. This test analyzes the fluid surrounding the fetus. It can determine if the fetus has XP and other genetic diseases.

If XP is suspected, your doctor will use a variety of diagnostic tools to determine if you have it and what type you may have. After a diagnosis, getting regular checkups for precancerous growths actinic keratosis is very important.

This can help to reduce the incidence of skin cancer and end the need for more invasive surgeries. Staying out of the sun and avoiding other UV light sources is crucial.

This means slathering up with sunscreen and covering up completely whenever going out of doors. While indoors, avoid window seats and light fixtures that emit UV light. For example, halogen lamps emit higher levels of UV light. UV meters can determine if artificial light sources in your home, school, or work emit UV light. Steps can then be taken to change out light sources or continue extreme photoprotection even while inside.

This means limiting your amount of sun exposure and always protecting your skin and eyes when outside. XP can be an isolating disease. It can be hard for children to attend school or other activities. Together, you can work to create an active life for your child. There are night camps, like Camp Sundown , that bring kids with photosensitivity together in a joyful setting. Some community spaces like parks, gyms, swimming pools, and other recreational areas remain open after dark.

If you or your child has XP, it will be important for you to create a lifestyle that centers around avoiding sun exposure. Sunlight can also pass through windows. Using window shades, or window protection film, can help filter out harmful UV rays. Preventing skin cancer and protecting the eyes are key. If the diagnosis is XP, working with a dermatologist helps to:. Seeing other health care professionals is usually necessary because people who have XP can develop related health problems.

These problems include possible troubles with eyesight, hearing loss, and spastic muscles. To improve the lives of their patients with XP, dermatologists continue to study this disease. Their work has led to:. This research can help everyone, not only their patients with XP. We all have sun-sensitive skin. Every year, millions of Americans develop skin cancer. While people who have XP require extreme sun protection, everyone can benefit from sun protection.

For most people, skin cancer is preventable. You can find out how to protect your skin at, Prevent skin cancer. J Am Acad Dermatol ; References American Academy of Dermatology. March Carruthers J.