Epidemiology
Etiology
- Autosomal recessive inheritance
- Genetic mutations cause defects in DNA nucleotide excision repair mechanisms.
Pathophysiology
Clinical features
- Cutaneous manifestations
- Slow healing, blistering burns after minimal exposure to sunlight in ∼ 60% of affected individuals
- Solar lentigines, xerosis, and poikiloderma due to repeated exposure to sunlight
- Premalignant lesions (e.g., actinic keratoses) and malignant lesions often develop during early childhood.