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Rare Diseases 2023

Xeroderma pigmentosum: what é, symptoms, cause and treatment

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Xeroderma pigmentosum: what é, symptoms, cause and treatment
Xeroderma pigmentosum: what é, symptoms, cause and treatment
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Xeroderma pigmentosum is a rare and hereditary genetic disease characterized by the skin's hypersensitivity to the sun's UV rays, resulting in dry skin and the presence of numerous freckles and white spots spread over the body, especially in areas of greater sun exposure, including the lips.

Due to the great sensitivity of the skin, people diagnosed with xeroderma pigmentosum are more likely to develop pre-malignant lesions or skin cancer, and it is important to use daily sunscreen with an SPF of 50 or more, in addition to appropriate clothing.

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

Main symptoms

The signs and symptoms of xeroderma pigmentosum and the severity may vary depending on the gene affected and the type of mutation. However, the most common symptoms are:

  • Many freckles on the face and all over the body, which become even darker when exposed to the sun;
  • Severe burns after a few minutes of sun exposure;
  • Appearance of blisters on skin exposed to the sun;
  • Dark or light spots on the skin;
  • Scabs on the skin;
  • Dry skin with scaly appearance;
  • Hypersensitivity in the eyes.

Symptoms of xeroderma pigmentosum usually appear during childhood to 10 years of age. It is important that the dermatologist is consulted as soon as the first signs and symptoms appear, so that the treatment can be started right away, because after the age of 10 there is an increased risk of developing skin cancer if there is still sun exposure without care. necessary.Learn how to identify the symptoms of skin cancer.

What causes xeroderma pigmentosum

The main cause of xeroderma pigmentosum is the presence of a mutation in genes responsible for DNA repair after exposure to ultraviolet radiation. As a result, DNA cannot be repaired correctly, resulting in changes in skin sensitivity and an increased risk of cancer.

How the treatment is done

Treatment for xeroderma pigmentosum should be guided by the dermatologist according to the type of lesion presented by the person. In the case of lesions without suspicion of skin cancer, the doctor may indicate the use of some creams, oral vitamin D replacement and some measures to prevent the progression of lesions, such as daily use of sunscreen and use of clothing with long sleeves, long pants and the use of sunglasses with a UV protection factor, for example.

However, in the case of lesions with malignant characteristics, possibly indicative of skin cancer, it may be necessary to perform surgery to remove the lesions that appear over time, in addition to performing more specific treatments, which may include chemotherapy and/or radiotherapy after surgery.Understand how skin cancer treatment is done.

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