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Skin diseases

Xeroderma pigmentosum (XP)

An inherited disease that causes extreme sensitivity to sunlight. The skin and eyes are easily damaged in the sun. The risk of skin cancer is greatly increased.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Skin diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

Ultraviolet rays in sunlight, called UV, damage the DNA of cells. Healthy cells repair this damage. In XP this repair cannot be done well. This is why skin and eyes exposed to the sun are easily damaged. In some people the nervous system is also affected.

Which symptoms can occur?

Symptoms usually begin in infancy or early childhood.

  • Severe sunburn after a few minutes in the sun (in about half)
  • Freckling on the face and arms before the age of 2 (in almost all)
  • Dry skin and changes in skin color
  • Painful sensitivity of the eyes to light
  • Redness of the eyes and clouding of the clear front layer
  • Skin cancers that can begin in childhood
  • Hearing loss, balance and walking problems (in some)

How is it diagnosed?

The diagnosis is considered from the symptoms and family history. A genetic test confirms the diagnosis by finding the change in the XP genes. After diagnosis, the skin, eyes, hearing and nervous system are checked.

Treatment and care

There is no definite cure for the disease. The most important care is strict protection of the skin and eyes from UV light. Protective clothing, a hat, UV-filtering glasses and sunscreen are used. At home and at school, UV sources are measured and reduced. UV-filtering film can be put on windows. The skin and eyes are checked at regular intervals. Precancerous spots and cancers are treated early. A vitamin D supplement may be needed. Cigarette smoke is avoided. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

XP is passed on through recessive inheritance. Two changed genes are needed to have the disease; one comes from the mother and one from the father. Carrier parents usually have no symptoms. For a carrier couple, the chance of an affected child in each pregnancy is 1 in 4. In marriages between relatives, the chance of two carriers coming together may be higher. Early testing of brothers and sisters allows early protection. Genetic counselling is recommended.

Source: MedlinePlus Genetics: Xeroderma pigmentosum · GeneReviews: Xeroderma Pigmentosum · NORD: Xeroderma Pigmentosum

Key facts

How is it inherited?
Autosomal recessive
When does it usually start?
Any age
Gene(s) involved
XPA, XPC, DDB2, ERCC2, ERCC4, ERCC3

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Guides related to this disease

  • Rare disease at school · Telling the school, medicines and emergency plan, inclusion and BEP, support education room, absences, LGS/YKS arrangements, peer bullying.

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about Xeroderma (XP)

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

ClinicalTrials.gov currently lists no active interventional studies for this disease. Last checked: October 7, 2026.

See all studies on ClinicalTrials.gov · Joining clinical trials

Skin diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:910 · ICD-11 LD27.1

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.