Living with Xeroderma pigmentosum variant type
A milder form of xeroderma pigmentosum with sun-sensitive skin and a higher chance of skin cancer, often noticed in the teen or adult years.
Understanding Xeroderma pigmentosum variant type
It is a rare genetic condition of sun sensitivity. GARD lists onset in the teen and adult years. It affects the skin and eyes, including dry skin, freckles in sun-exposed areas, changes in skin color and eye sensitivity to light.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Skin that burns easily in sunlight
- Freckles in sun-exposed areas
- Dry skin
- Patchy darker or lighter skin
- Extreme eye sensitivity to light
- Skin cancers, including melanoma
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 cancer specialists, eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in POLH are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Cancer specialists (oncologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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
Changes in the POLH gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: photosensitivity with defective dna synthesis; polh-related xeroderma pigmentosum; xeroderma pigmentosum variant; xeroderma pigmentosum with normal dna repair rates; xpv
Patient organizations
- Xeroderma Pigmentosum SocietyXeroderma pigmentosum variant type · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Xeroderma pigmentosum variant type.
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