Xeroderma Pigmentosum

Xeroderma pigmentosum is a very rare congenital disease, which has very unpleasant consequences and severely hinders the life of the affected person. The essence of the disease is increased sensitivity to UV radiation.


Note: The term xeroderma pigmentosum means “dry and pigmented skin” in Latin.



The disease is genetically determined and the affected suffers from it since birth. The condition is caused by disorder in genes responsible for DNA repair. There are multiple known genes whose damage may be responsible for the disease. The DNA molecules in our cells are continuously damaged by contact with various physical and chemical environmental effects that increase the risk of cancers as the tumor formation is always related to genetic mutations in the cells. Without certain genes that repair the DNA damage, the situation is very serious.


The fundamental problem of the disease is reduced ability to tolerate the sunlight that comes in direct contact with our skin. Solar UV radiation and its components damage the skin cells and their genetic information. The sun has a devastating effect on the skin. Even slight exposure to the sunlight may cause unusually severe burns that may be accompanied by blisters. The mutation of the genetic information in cells of the skin gives rise to various forms of skin cancers such as basal cell carcinoma or melanoma. The organism tries to defend against the damage by local accumulation of colored pigment melanin. This causes formation of numerous black spots on the skin. The skin itself easily dries out and becomes abnormally thickened. The sun radiation also affects the eyes causing them to turn painfully red. In addition, the people with xeroderma pigmentosum have significantly higher risk of developing various forms of cancers of internal organs.


Clinical symptoms are quite characteristic, but the rarity of the disease makes it difficult to think about the right diagnosis. Genetic testing is the only accurate diagnostic method that can confirm the disease.


We are unable to cure the condition. The patients must avoid sunlight and use various means of skin any eye protection. The skin should be regularly checked by a dermatologist and any suspicious lesions should be surgically removed. However, skin cancers or other malignant tumors are a common cause of death of these patients despite the best care.


Jiri Stefanek, MD  Author of texts: Jiri Stefanek, MD
 Contact: jiri.stefanek@seznam.cz
 Sources: basic text sources