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Xeroderma pigmentosum (XP)

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)


High rate of MM, SCC, freckles