Understanding Xeroderma Pigmentosum: For Patients

Xeroderma pigmentosum is a rare condition that makes the skin extremely sensitive to sunlight because the body cannot properly repair UV related DNA damage. Symptoms often begin in early childhood and can include severe sunburns, freckling, and dark spots, with risks for skin cancers, eye problems, and sometimes neurologic issues. Diagnosis relies on clinical evaluation and genetic testing of the DNA repair pathway, and care is best managed by a team that includes dermatology, ophthalmology, neurology, and genetics. Strict sun protection, frequent skin and eye exams, and early treatment of any cancers are the cornerstones of management, while emerging therapies and counseling support families over time.

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