Overview

Limited structured data is available for this condition. Information continues to be gathered as research progresses.(4 data sources · Data coverage: Limited)

Overview

Xeroderma pigmentosum (XP) is a rare genetic skin disorder that causes extreme sensitivity to sunlight. People with this condition have skin and eye changes when exposed to ultraviolet (UV) light. Over time, these changes can lead to multiple skin cancers. XP is divided into 8 different groups, with classical forms (XPA to XPG) and an XP variant, based on which gene is affected. This condition is seen as a genodermatosis, meaning it is related to the skin and is inherited. It affects the way the body repairs damage caused by UV light, which can result in serious skin problems. Information about the complete range of symptoms and severity can vary among those with XP, making careful management important.

Symptoms & Signs

Common symptoms of xeroderma pigmentosum include an extreme sensitivity to sunlight and UV radiation. This sensitivity can cause early and severe sunburns, skin damage, and a higher risk of developing skin cancers. The eyes can also be affected by UV light, potentially leading to vision problems over time.

Causes & Risk Factors

Xeroderma pigmentosum is caused by changes in genes that are important for repairing DNA damage from UV light. These genetic changes make it very difficult for the body to fix the damage caused by the sun, which leads to the symptoms seen in this condition. The disorder is subdivided into classical XP (XPA to XPG) and an XP variant, depending on which gene is affected.

Treatment & Management

Information about treatment is currently limited for this condition.

Prognosis & Outlook

Information about prognosis is currently limited for this condition.

Research & Clinical Trials

Information about research is currently limited for this condition.

Patient Organizations

Connect with organizations supporting the xeroderma pigmentosum community

Xeroderma Pigmentosum Society, Inc.

Quick Resources

Helpful links for rare disease information and support

GARD (Genetic and Rare Diseases Information Center)NORD (National Organization for Rare Disorders)Find a Genetic Counselor

General Questions to Consider

Questions that may be helpful when speaking with your healthcare team

•Are there specialists or centers of excellence with experience in this condition?
•Is there a patient registry I could participate in?
•Should my family members consider genetic testing?
•What clinical trials might be available for this condition?
•Are there patient advocacy groups I should connect with?

Clinical

Associated Genes

8 genes

POLH ERCC5 XPA DDB2 XPC ERCC3 ERCC4 ERCC2

Gene data from HGNC • Click to view on NCBI Gene

Treatment

Support

Patient Advocacy Groups

View all PAGs →

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