Pigmented Xeroderma

Generality

Xeroderma pigmentosum is a rare inherited genetic disease that causes abnormal and excessive sensitivity to sunlight.

The causes of the disorder are related to the mutation of a gene that produces a protein essential for DNA repair. Individuals affected by xeroderma pigmentosum suffer from skin, eye and, in some cases, nervous system disorders. Since it is almost inevitable to develop cancers on the skin or in other organs of the body, the quality of life is severely compromised, as are expectations.
The diagnosis of xeroderma pigmentosum is based on the observation of symptoms and signs, which are evident and somewhat unambiguous.
Unfortunately, there is still no specific cure for healing, but treatment for symptom control is still available.