📋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.
🛡️ Educational information only
This content is provided for general health education and awareness and is based on publicly available medical information. It is not intended to replace professional medical advice, diagnosis, or treatment, and should not be used to make healthcare decisions. Always seek the guidance of a qualified healthcare professional regarding any medical condition, medication, supplement, or procedure.
Additional Resources
Medical codes (for reference)
UMLS CUI: C0043346Codes are provided for reference and interoperability. They are not a diagnosis.
Found an Error?
Help us keep this information accurate. If you notice any incorrect details, please submit a correction request.