Today, the appearance of a person plays a significant role. But, unfortunately, it happens that sometimes a malfunction occurs in the body, and something in the body begins to function completely wrong. It is this problem, which affects the appearance of a person, that is pigment xeroderma. What kind of disease is this and everything important about the disease - this will be discussed later.
Terminology
Initially, you need to understand what it is. So, pigment xeroderma is a disease of the skin that is hereditary. Moreover, human skin is hypersensitive to solar radiation. In this regard, this condition of the patient is often called a precancerous doctor. Speaking in medical terms, this pathology is an autosomal recessive DNA disease, when cells themselves cannot correct gaps or gaps in molecules.
What else do you need to know about the diagnosis of pigment xeroderma? The type of inheritance, as mentioned above, is autosomal recessive. However, scientists note that it can also be autosomal dominant, as well as partially linked to the sex chromosome.
Some statistics and features
If we talk about developed countries, then pigment xeroderma occurs in one person per 1 million inhabitants. However, in China this figure is significantly higher - 1 patient per 100 thousand inhabitants. Scientists also note that this form of the disease is characteristic mainly for closed communities, groups, so-called isolates, formed on special convictions (for example, religious communities). Also, this problem is hereditary and is transmitted from parents to the child. Doctors say that this disease also often occurs in the case of marriages of relatives by blood.
The appearance of the disease
What does pigment xeroderma look like? On the skin of a person there is a special pigmentation. This all happens as a result of exposure to the skin of the patient with ultraviolet radiation. But if healthy people have special enzymes that prevent the occurrence of these spots, then in such patients they are not active. The reason for this is a mutation in proteins that are responsible for tissue repair after such an effect. Mutated cells gradually accumulate in the body, resulting in skin cancer. In addition to ultraviolet radiation, it should be noted that the patient’s skin is also very sensitive to radiological (ionizing) radiation.
About types of disease
I would also like to note that there are various types of pigment xeroderma. In total, there are seven of them, and they differ in letters: A, B, C, D, E, F, G. Each of these types is assigned a special mutant gene. The features of such differences are still being studied by scientists. In addition, the eighth type - pigmented xerodermoid Jung - is isolated. However, it must be said that in this case the primary defect is not known at all.
Symptomatology
I must say that at birth, pigmented xeroderma of the skin is not diagnosed. Children are born normal, there are no unnecessary manifestations on the skin. The first symptoms begin to occur approximately in the period of 3 months - 3 years, however, an earlier or later start of the process is possible, depending on the strength of the ultraviolet. The first symptoms that appear in children:
- lacrimation of the eyes;
- photophobia;
- conjunctivitis is possible;
- the disease can manifest as photodermatitis.
On the body of the child spots appear similar to moles or freckles. Gradually, their number is increasing. This is due to a violation of pigmentation processes. Other symptoms that further begin to appear:
- Teleangiectasia, that is, the vessels of the skin expand.
- There may also be hyperkeratosis, when the cells divide very quickly, and the processes of desquamation are inhibited. As a result of this, keratinization of the skin may occur.
- There is increased dryness of the skin.
Clinical picture
Genetic skin diseases include the following diseases: xeroderma pigmentosa, progressive reticular melanosis, Peak melanosis , which, in fact, is one and the same disease. The clinical picture is divided into three main types:
- Inflammatory In open areas of the skin, spots similar to freckles appear. Gradually, scales similar to lentigo appear.
- Hyperkeratic stage. On the skin, islands alternately form from a cluster of freckles, scales, and lentigo elements. Everything resembles a picture of chronic radiation dermatitis. Sometimes warty formations may occur. All these atrophic changes gradually lead to depletion of the cartilage of the nose, auricles, natural openings can be deformed. Also at this stage, baldness, loss of eyelashes is possible. The cornea may become clouded, photophobia and tearing are observed.
- At the last stage, the problem crosses the cancer border. Both benign and malignant neoplasms appear on the skin.
Neuralgic features
Approximately one in five patients with this diagnosis have neuralgic abnormalities. There may be lag in mental development, areflexion (lack of reflexes). It is also important to note that pigment xeroderma is often associated with such diseases:
- Reed's syndrome, when the growth of the skeleton slows down, the cranium decreases, physical and mental development is delayed.
- De Sanctis-Kakkione syndrome, when disorders in the central nervous system are manifested together with skin manifestations.
Causes of the disease
What you need to know about a problem such as pigment xeroderma? Causes, symptoms of the disease? If everything is clear with the manifestations of the disease, then it's time to find out what exactly provokes its occurrence. As it has already become clear, this is a special gene mutation when the culprit is the autosomal gene transmitted from parents. Also, the cells of the patient lack UV-endonuclease enzymes; there may be a deficiency of RNA polymerase. Scientists also say that the cause of the development of pathology may be an increase in the human environment of porphyrins, special natural enzymes that adversely affect the skin.
Diagnostics
The relevance of pigment xeroderma today is very high. Indeed, an increasing number of people are trying more often to be in the sun, completely not afraid of the action of UV rays. And this is wrong. Even if the person is not threatened by this disease, it is best to expose the skin to a minimum degree of active solar radiation. How can this disease be detected?
- Examination of the skin with a monochromator, a special tool that determines the level of photosensitivity of the skin.
- The next step is a biopsy. In this case, particles of neoplasms on the skin of the patient are examined.
- Tissue samples taken during a biopsy are histologically examined.
Problem treatment
If the patient is diagnosed with "pigment xeroderma", treatment of the patient is what is very important. So, a person will have to strictly follow the doctor’s instructions:
- You need to visit a dermatologist regularly.
- In the early stages, antimalarial drugs are actively used (for example, Delagil or Rezokhin), which reduce the sensitivity of the skin to light.
- Mandatory is vitamin therapy to support the body. In this case, you need to take nicotinic acid (vitamin PP), retinol (this is vitamin A), as well as complex B vitamins.
- If scaly flakes form on the skin, then they must be treated with ointments based on corticosteroids.
- If warts appear on the skin, then ointments with cytostatics will have to be used, the main task of which is to prevent further cell division.
- Sometimes patients need to drink antihistamines, in other words, anti-allergic drugs, such as Tavegil or Suprastin, or desensitizing drugs that weaken the allergic reaction.
- With active exposure to the patient’s skin, for example, in summer, the patient is prescribed creams or sprays that are protective against UV radiation.
- If there is a threat of tumor formation, the patient should be registered not only with an oncologist, but also periodically examined by a group of other specialists: a dermatologist, an ophthalmologist and a neurologist.
- Neoplasms on the skin, even warty ones, must be removed surgically.