What is Xeroderma Pigmentosa and how to treat it

Xeroderma Pigmentoso is a rare and hereditary genetic disease characterized by hypersensitivity of the skin to UV rays from the sun, resulting in dry skin and the presence of numerous freckles and white spots scattered throughout the body, especially in the areas of greatest sun exposure, including the lips.

This genetic disease does not have a definitive cure, but treatment can prevent the onset of complications, and must be followed for a lifetime.

Due to the great sensitivity of the skin, people diagnosed with Xeroderma Pigmentosa have a greater chance of developing pre-malignant lesions or skin cancer and it is important to use sunscreen daily above 50 SPF and appropriate clothing.

The disease usually appears in childhood, and can be seen by the greater tendency of the child to have severe burns after a few minutes of sun exposure, in addition to the appearance of freckles on the face, arms and lips before 2 years of age.

Main symptoms

The occurrence of Xeroderma Pigmentoso is related to a mutation in genes responsible for DNA repair after exposure to ultraviolet radiation. Due to the alteration in the DNA repair process, the person can present the symptoms of Xeroderma Pigmentoso, whose severity can vary according to the affected gene and the type of mutation. The main symptoms are:

  • Many freckles on the face and all over the body, become even darker when exposed to the sun;
  • Severe burns after a few minutes of sun exposure;
  • Blisters appear on the skin exposed to the sun;
  • Dark or light spots on the skin;
  • Formation of crusts on the skin;
  • Dry skin with the appearance of scales;
  • Hypersensitivity in the eyes.

The symptoms usually appear during childhood, until the age of 10, however, from this age onwards, the person may start to show symptoms related to skin cancer. Learn how to identify the symptoms of skin cancer.

People who have these symptoms should consult a dermatologist in order to make the diagnosis and analysis of skin lesions and, thus, initiate appropriate treatment.

How the treatment is done

The treatment for Xeroderma Pigmentoso must be done according to the type of injury presented by the person.

Pre-malignant lesions:

In the case of pre-malignant lesions, topical treatment, oral vitamin D replacement and preventive measures may be recommended in order to prevent the progression of the lesions, such as the use of a daily sunscreen with a high sun protection factor, giving preference to activities in the late afternoon or evening, wear clothes with long sleeves and long pants, wear sunglasses with UV protection factor, and avoid using fluorescent lamps indoors. See also how to avoid skin cancer.

Malignant lesions:

In the case of lesions with malignant characteristics, surgery may be necessary to remove lesions that appear over time, in addition to specific treatment. See how the treatment for skin cancer is done.