Living with Xeroderma pigmentosum
An inherited condition with extreme sensitivity to sunlight and other ultraviolet light, mainly affecting the skin and eyes.
Understanding Xeroderma pigmentosum
XP mostly affects the eyes and sun-exposed skin. It raises the risk of skin cancers caused by UV light. Signs usually appear in infancy or early childhood, such as severe sunburn after a few minutes in the sun, and freckling by age 2. Some people also have nervous system problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe sunburn with redness and blisters
- Freckling in sun-exposed skin
- Dry skin and changes in skin color
- Eye problems such as cataract and keratitis
- Skin cancers, including melanoma
- Learning or thinking difficulties
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, cancer specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Ataxia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: National Ataxia Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Xeroderma Pigmentosum Society and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says this condition is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent. It doesn't list a specific gene here.
Also known as: angioma pigmentosum atrophicum; atrophoderma pigmentosum; kaposi dermatosis; kaposi disease; melanosis lenticularis progressiva; pigmented epitheliomatosis
Patient organizations
- Xeroderma Pigmentosum SocietyXeroderma pigmentosum · United States
- XP Family Support GroupXeroderma pigmentosum · United States
- National Ataxia FoundationAtaxia · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Xeroderma pigmentosum.
Explore research for Xeroderma pigmentosum
Explore actively recruiting Xeroderma pigmentosum studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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