Xeroderma Pigmentosum

📋Overview

This condition occurs when mutations in specific genes impair nucleotide excision repair, the process responsible for correcting DNA damage caused by ultraviolet light. Without functional repair pathways, the skin cannot effectively recover from radiation exposure, leading to cellular abnormalities.

Common clinical features include the early onset of severe sunburns, extensive freckling, and significant changes in skin pigmentation. These underlying genetic defects also contribute to a markedly increased risk of developing skin cancers at a young age.