Genodermatoses with Defective Excision Repair

Normally in healthy persons, ultraviolet induced DNA damage is repaired by a process known as nucleotide excision repair (NER). In this group of genodermatoses, mutation in one of the genes of repair mechanism resulting in deficient repair. These genodermatoses with defective excision repair presentedma with photosensitivity and other cutaneous and extracutaneous manifestations and photos of increased diseases. Increased tendency to malignancy was found in most of them. In this chapter, Xeroderma pigmentosum, pigmented xerodermoid, DeSanctis-Cacchione syndrome, dyskeratosis congenita and Rothmund-Thomson syndrome are presented.