Today, the appearance of a person plays a significant role. But, unfortunately, it happens that sometimes a failure occurs in the body, and something in the body begins to function completely differently than it should. It is such a problem, which affects the appearance of a person, is xeroderma pigmentosum. What kind of disease is this and everything important about the disease - this will be discussed further.
Terminology
Initially, you need to understand what it is. So, pigment xeroderma is a skin disease that is hereditary. At the same time, human skin is hypersensitive to solar radiation. In this regard, this condition of the patient is often called precancerous by doctors. In medical terms, this pathology is an autosomal recessive DNA disease, when cells themselves cannot fix gaps or breaks in molecules.
What else do you need to know about the diagnosis of xeroderma pigmentosa? 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, xeroderma pigmentosum occurs in one person per 1 million inhabitants. However, in China, this figure is much higher - 1 patient per 100,000 inhabitants. Scientists also note that this form of the disease is typical mainly for closed communities, groups, the so-called isolates, formed according to special beliefs (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 close relatives by blood.
Appearance of disease
What does xeroderma pigmentosa look like? On the skin of a person there is a special pigmentation. This all happens as a result of exposure to the patient's skin of ultraviolet radiation. But if he althy people have special enzymes that prevent the occurrence of these spots, then in such patients they are not active. It's all to blame for a mutation in proteins that are responsible for tissue repair after such an influence. Mutated cells gradually accumulate in the body, resulting in skin cancer. In addition to ultraviolet, it should be noted that the patient's skin is also very sensitive to radiological (ionizing) radiation.
About types of diseases
I would also like to note that there are different types of xeroderma pigmentosa. In total, seven of them are distinguished, and they differ in letters: A, B, C, D, E, F, G. Each of these types is assigned a specialmutated gene. Features of such differences are still being studied by scientists. Additionally, the eighth type is distinguished - Young's pigmented xerodermoid. However, it must be said that in this case the primary defect is not known at all.
Symptomatics
It must be said that xeroderma pigmentosum is not diagnosed at birth. Babies are born normal, there are no superfluous manifestations on the skin. The first symptoms begin to appear around 3 months - 3 years, however, an earlier or later onset of the process is possible, depending on the strength of the ultraviolet. The first symptoms that appear in children:
- teary eyes;
- photophobia;
- possible conjunctivitis;
- disease may manifest as photodermatitis.
Spots appear on the child's body, similar to moles or freckles. Gradually their number increases. This is due to a violation of the pigmentation processes. Other symptoms that continue to appear:
- Telangiectasia, that is, the vessels of the skin are dilated.
- There may also be hyperkeratosis, when cells divide very quickly, and their desquamation processes are inhibited. As a result, keratinization of the skin may occur.
- There is increased dryness of the skin.
Clinical picture
Genetic skin diseases include such diseases: xeroderma pigmentosa, reticular progressive melanosis, Peak's melanosis, which,in fact, is the same disease. The clinical picture is divided into three main types:
- Inflammatory. Freckle-like spots appear on open areas of the skin. Gradually, lentigo-like scales appear.
- Hyperkeratic stage. On the skin, islands are alternately formed from the accumulation of freckles, scales, elements such as lentigo. Everything resembles a picture of chronic radiation dermatitis. Sometimes there may be warty formations. All these atrophic changes gradually lead to the 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 cloudy, photophobic and teary.
- At the last stage, the problem crosses the border of cancer. Both benign and malignant neoplasms appear on the skin.
Neuralgic features
Approximately every fifth patient with this diagnosis has neuralgic abnormalities. There may be mental retardation, areflexia (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, there is a delay in physical and mental development.
- De Sanctis-Cacchione syndrome, when disorders in the central nervous system appear along with skin manifestations.
Causes of disease
Whatyou need to know about such a problem as xeroderma pigmentosa? 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 an autosomal gene transmitted from parents. Also, in the cells of the patient there are no 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 negatively affect the skin.
Diagnosis
The relevance of pigment xeroderma today is very high. After all, an increasing number of people are trying to be in the sun more often, not at all afraid of the action of UV rays. And this is wrong. Even if a 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 instrument that determines the level of light sensitivity of the skin.
- The next step is a biopsy. In this case, particles of neoplasms on the patient's skin are examined.
- Tissue samples taken during the biopsy are examined histologically.
Treating the problem
If a patient is diagnosed with xeroderma pigmentosa, treatment of the patient isthat's what's very important. So, a person will have to strictly follow the doctor's instructions:
- You need to see 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.
- Vitamin therapy is mandatory to support the body. In this case, you need to take nicotinic acid (vitamin PP), retinol (this is vitamin A), as well as vitamins of group B in the complex.
- If flaky scales form on the skin, then they should be treated with ointments based on corticosteroids.
- If warts appear on the skin, then you will have to use ointments with cytostatics, the main task of which is to prevent further cell division.
- Sometimes patients need to drink antihistamines, in other words, antiallergic drugs, for example, Tavegil or Suprastin, or desensitizing drugs that weaken the allergic reaction.
- When the patient's skin is actively exposed, for example, in summer, the patient is prescribed UV-protective creams or sprays.
- 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 neuropathologist.
- Skin growths, even warty ones, must be surgically removed.
