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Parchment leather is a rare but very serious skin disease. It does not regenerate the DNA of skin and eyes damaged by the sun. This leads to the development of neoplasms, including malignant melanoma, in the first years of the patient's life. What are the causes and symptoms of parchment skin? What is its treatment?

Pigmented parchment skin(LatinXeroderma pigmentosum ) togenodermatosis , i.e. genetically determined skin disease . It does not repair the DNA of skin cells damaged by solar radiation. After contact with the sun, the DNA of skin cells absorbs its rays, which leads to the so-called the process of epidermal carcinogenesis, i.e. changes leading to the formation of a cancer. Then the cells activate repair mechanisms - endonuclease enzymes that efficiently cut out damaged DNA fragments, and then, a few hours after exposure to UV rays, insert the correct ones. In this way, the genetic material damaged by radiation is constantly rebuilt.

A similar process takes place in the DNA of the eye cells. In the case of parchment skin, the repair processes do not take place or do not take place properly, which inevitably leads to the development of cancer cells when exposed to the sun.

The disease is rare in Europe and the United States (1: 250,000). This ratio is higher in countries such as Japan and Pakistan (1: 40,000).

Parchment leather - reasons

The cause of the disease is as many as 8 genetic mutations involved in DNA repair. The disease is inherited in an autosomal recessive manner. This means that defective copies of the genes must be inherited from both parents for symptoms of the disease to appear. If you inherit only one mutant copy, you are only a carrier.

Parchment leather - symptoms

U 50 percent sick symptoms appear in the first month of life in the form of:

  • hypersensitivity to the sun's rays;
  • frequent sunburn;
  • long-lasting blush;
  • freckles;
  • skin discoloration;
  • premature skin aging;
  • spotted hyperpigmentation;
  • loss of normal skin color;

There are also problems with eyesight:

  • keratitis;
  • conjunctivitis;
  • photophobia;

and neurological disorders:

  • microcephaly;
  • hearing loss;
  • spasticity;
  • ataxia;
  • seizures;

Parchment skin and cancer

People with parchment skin have an increased risk of developing skin cancers, including malignant melanoma, and also of the eyes - mainly squamous cell carcinoma of the eye and melanoma of the eye. They can develop already in early childhood. Therefore, regular skin and eye examinations are essential to detect and treat cancer early.

Parchment leather - diagnosis

Diagnosis is made by the symptoms and results of a cellular test for repairing damaged DNA. The results of the test for hypersensitivity to UV rays are also important. In families with parchment skin, prenatal diagnosis is performed, the so-called a comet test to determine DNA repair.

Parchment leather - treatment

Parchment skin is a genetically determined skin disease, therefore causal treatment is not possible. The goal of therapy is to relieve symptoms. Above all, the patient must avoid contact with the sun, and also use creams with a very high sunscreen (50+), even if he is indoors. Protective clothing is also helpful.

Lack of exposure to the sun entails a deficiency of vitamin D, therefore it is necessary to take care of its supplementation.

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Category:

Dermatology