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Xeroderma pigmentosum

What is it?

Genetic disease in which the patient has a difficulty in reversing the aggression that solar radiation causes to DNA (genetic code) of skin cells. Usually, a natural mechanism corrects the changes caused by UV radiation on DNA and, therefore, the harm caused by the sun will only appear with the cumulative damage after many years.

Due to a deficiency of this correction mechanism, patients with xeroderma pigmentosum rapidly develop degenerative lesions in the skin such as freckles, sun spots, actinic keratosis, and various skin cancers due to an accelerated process of photoaging.

Characteristics and symptoms

During childhood, the child who suffers from xeroderma pigmentosum presents too many freckles and the skin is drier than normal. Soon, the skin becomes rough and actinic keratosis begin to develop, lesions that usually arise in adulthood or old age, in people who suffered intense sun exposure.

With the evolution of the disease, begins the emergence of various types of skin cancer: basalcell and squamouscell carcinomas, melanomas and sarcomas.

In the photo below we see the hand of a 17 years old patient, showing characteristics of skin aging and highly damaged by the sun, despite her age.

Even individuals from African ascent, in which these changes are rare, present these characteristics, which usualy are only found in white people who had intense exposure to the sun throughout life.

Treatment

The best way to treat xeroderma is to diagnose the condition as soon as possible and radically avoid exposure to sunlight or other sources of ultraviolet radiation.

Acitretin, a drug of the group of retinoids, may be used to control the progression of skin changes, having to be taken continuously. Furthermore, lesions of actinic keratosis and skin cancer that arise should be treated by cryosurgery or surgical removal.

Being a genetic disease, it's still not possible to cure it until there is enough technology to identify and fix the gene responsible for its cause. There are several different forms of xeroderma pigmentosum and, probably, each one represents a defect in one or more specific genes.

Related articles

- Actinic keratosis
- Basalcell carcinoma
- Squamouscell carcinoma
- Malignant melanoma


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