Xeroderma pigmentosum patients are highly prone to develop skin cancers therefore it is important to diagnose xeroderma pigmentosum (XP)  as early as possible for the timely intervention, because consequences of delayed or missed diagnosis are devastating.

Team@CMHF

XP is a rare, autosomal-recessive genetic disorder of DNA repair in which the ability to repair the damage caused by ultraviolet radiation is deficient. All patients with XP are photosensitive (in varying degrees), and some may burn even after minimal amounts of sun exposure.

Patients will typically exhibit premature skin aging at a very early age and develop skin cancers such as basal cell carcinoma, squamous cell carcinoma and melanoma.
A specially designated protocol is followed to diagnose. Measures for protection against further damage and monitoring for disease progression are taught to the patients. Patients can be treated with oral isotretinoin, which has shown to cause a dramatic reduction in the frequency of new skin cancers, but the side effects of the medication can be severe.

Educating patients, physicians and the general public about the signs and symptoms of XP is critical, as this could lead to earlier recognition of the disease and subsequent earlier diagnosis. An early diagnosis can have an enormous impact on the morbidity — and sometimes mortality — of the patient. One of the main hallmarks of the disease in XP patients is an extreme hypersensitivity to ultraviolet (UV) radiation. Eliminating the ultraviolet radiation essentially eliminates all of the damage that it can cause the patient. XP patients must practice sun avoidance and whenever necessary use good sunscreen protection. Using these methods of protection, XP patients now can have a better life expectancy and have a significantly decreased frequency of skin cancers as compared to years before, where they would typically show signs of premature skin aging and develop numerous skin cancers at a very young age.

Patients may either present with blistering sunburn after exposure to very little sunlight or extreme freckling at a very young age without the capacity to burn after minimal sun exposure. Early signs and symptoms of XP can easily be confused with infections such as impetigo or diseases such as porphyria.Websites and patient support groups are there to help in significantly improving patients’ quality of life.

Reference: http://topics.pe.com/article/0elrfoz2BB30H?q=Skin+Cancer