What is Xeroderma Pigmentosum in medical world ?
Xeroderma Pigmentosum is a rare disease with autosomal recessive inheritance, characterized by ultraviolet-UV hypersensitivity in the skin, early skin cancers and eye disorders. Its prevalence in the society is around 1 / 100,000.
Neurological complications are also seen in approximately 20% of the cases.
The main defect is that the defect caused by ultraviolet at 280-310 nanometer wavelength in cell DNA cannot be repaired. Failure to repair damaged DNA in xeroderma pigmentosum causes cell functions to deteriorate, resulting in skin cancers due to mutations, cell degeneration, and premature cell death. This repair defect can occur in cells of the immune system, especially lymphocytes, as well as cells in the skin. For this reason, the frequency of extra-skin cancers has also increased. It is thought that the hereditary disorder involves not a single gene, but several genes and that different clinical pictures are observed.