How is xeroderma pigmentosum diagnosed?
Xeroderma pigmentosum (XP) is diagnosed based on the symptoms and clinical exam and may be confirmed by the results of genetic testing . Specialized testing may be done on skin cells to check for sensitivity to ultraviolet radiation .
What are the symptoms of xeroderma pigmentosum?
Symptoms
- Sunburn that does not heal after just a little bit of sun exposure.
- Blistering after just a little bit of sun exposure.
- Spider-like blood vessels under the skin.
- Patches of discolored skin that get worse, resembling severe aging.
- Crusting of the skin.
- Scaling of the skin.
- Oozing raw skin surface.
What is the life expectancy of someone with XP?
The life expectancy is shortened for many individuals with XPA due to the dramatically increased risk for skin cancer and risk for neurodegeneration. The average life expectancy of an individual with any type of XP with neurological features is 29 years (37 years if neurological features are not present).
How is xeroderma treated?
Treatment of xeroderma is focused on keeping the skin moist: Frequency of bathing should decrease and tepid, rather than hot, water should be used. Skin moisturizers should be used frequently, particularly immediately after bathing, to decrease transepidermal water loss.
Does XP affect the brain?
The XP-A patients developed neurological and cognitive dysfunction in childhood. The neurological disease advanced in an orderly fashion through its successive stages, finally affecting the whole nervous system and leading to death before the age of 40 years.
What happens when XP is triggered?
Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight . This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system.
What is senile xeroderma?
Xeroderma, xerosis or xerosis cutis, or simply dry skin, is a skin condition characterized by excessively dry skin. The medical term xeroderma is derived from the Greek words meaning dry skin.
Is Werner syndrome treatable?
There is no cure for WS and treatment involves a multidisciplinary team. Cataracts can be treated with surgery. Regular physical examinations are needed to check for skin ulcers, diabetes, malignancies or cardiovascular disease. Any malignancies should be treated with surgery, chemotherapy and/or radiation.
Is XP fatal?
There is no cure for xeroderma pigmentosum. The most common fate for individuals with XP is early death from cancer.