Defining Characteristics
Marked increase in skin malignancies at young age, photosensitivity, impaired DNA damage repair systems
Disease Development
Defective NER (nucleotide excision repair);
accumulation of oxidative and DNA damage
Potential Causes
At least 10 DNA repair defects
Conventional Treatment
New tx include mimics of photolyases (enzymes in other organisms that repair CPDs)
Complications
High rate of MM, SCC, freckles