Pigment Xeroderma: Causes, Symptoms, Description and Features of Treatment

Today, the appearance of a person plays a significant role. But, unfortunately, it happens that sometimes in the body there is a malfunction, and something in the body begins to function completely differently than necessary. It is this problem, which affects the appearance of a person, is the pigment xeroderma. What kind of illness is this and all that is important about the disease - this will be discussed later.

Terminology

Initially, you need to understand what it is. So, pigmentary xeroderma is a disease of the skin that is hereditary. Moreover, the human skin is supersensitive to solar radiation. In this regard, this condition of the patient often doctors are called precancerous. If to speak the medical language, then this pathology is an autosomal recessive disease of DNA, when the cells themselves can not correct the gaps or ruptures in the molecules.

What else 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 to speak about the developed countries the pigmentary xeroderma meets at one person on 1 million inhabitants. However, in China this figure is much higher - 1 patient per 100 thousand inhabitants. Also, scientists note that this form of the disease is characteristic mainly for closed communities, groups, so-called isolates, formed according to special beliefs (for example, religious communities). Also, this problem is hereditary in nature and transmitted from parents to the child. Doctors say that this disease also often occurs in the case of marriages of blood relatives close by blood.

Appearance of the disease

What does the 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 patient's skin ultraviolet. But if healthy people work with special enzymes that prevent the appearance of these spots, then in such patients they are not active. All the fault is a mutation in proteins that are responsible for restoring tissues after such an effect. Mutated cells gradually accumulate in the body, which as a result leads to skin cancer. In addition to ultraviolet, it should be noted that the skin of the patient is also very sensitive to radiological (ionizing) radiation.

About types of disease

I also want to note that there are different types of pigment xeroderma. Seven in total, they are distinguished by the letters: A, B, C, D, E, F, G. Each of these types is assigned a special mutant gene. The peculiarities of such differences are still studied by scientists. In addition, the eighth type, the pigment Xerodermoid Jung, is isolated. However, it must be said that in this case the primary defect is not at all known.

Symptomatics

It must be said that at birth pigmentary xeroderma of the skin is not diagnosed. Babies are born normal, there are no superfluous 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, depending on the strength of the ultraviolet action, is possible. The first symptoms that are manifested in children:

• Tear of the eyes;
• photophobia;
• Possible conjunctivitis;
• The disease can be manifested by photodermatitis.

On the child's body appear spots that look like moles or freckles. Gradually, their number increases. This is due to a violation of the pigmentation processes. Other symptoms that start to appear:

1. Teleangiectasia, that is, the vessels of the skin integrate.
2. There may also be hyperkeratosis, when cells quickly divide, and the processes of their slimming are inhibited. As a result, the keratinization of the skin can occur.
3. There is increased dryness of the skin.

Clinical picture

Genetic diseases of the skin include such diseases: pigment xeroderma, reticular progressing melanosis, Peak melanosis, which, in fact, is one and the same disease. The clinical picture is divided into three main types:

1. Inflammatory. On open areas of the skin, spots that look like freckles appear. Gradually, scales appear, similar to lentigo.
2. Hyperkeratical stage. On the skin alternately formed islets from a conglomeration of freckles, scales, elements of the Lentigo type. Everything resembles a picture of chronic radiation dermatitis. Sometimes there may be warty formations. All these atrophic changes gradually lead to depletion of the cartilage of the nose, the auricles, the natural openings can be deformed. Also at this stage, it is possible to have baldness, loss of eyelashes. The cornea may become clouded, photophobia and tearing occur.
3. At the last stage the problem crosses the border. Both benign and malignant neoplasms appear on the skin.

Neuralgic features

Approximately one in five patients with this diagnosis have neurological abnormalities. There may be lag in mental development, 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.
• Syndrome De Sanctis-Kakkione, when violations in the work of the central nervous system manifest themselves together with skin manifestations.

Causes of the disease

What you need to know about such a problem as pigmentary xeroderma? Causes, symptoms of the disease? If everything is clear with manifestations of the disease, then it's time to find out what exactly provokes its occurrence. As it became clear, this is a special gene mutation, when the culprit is an autosomal gene transmitted from the parents. Also in cells of the patient there are no enzymes of UV-endonuclease, there may be a deficiency of RNA polymerase. Also, scientists 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.

Diagnostics

The actuality of pigment xeroderma is very high for today. After all, an increasing number of people try to visit the sun more often, without fear of the effects of UV rays. And this is wrong. Even if a person does not threaten this disease, the skin is best minimally exposed to active sunlight. How can you detect this disease?

• 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, the particles of neoplasms on the patient's skin are examined.
• Samples of tissues taken during a biopsy are histologically examined.

Treatment of the problem

If the patient is diagnosed with a "pigment xeroderma", treatment of the patient is what is very important. So, a person will strictly follow the doctor's instructions:

• It is necessary to visit a dermatologist on a regular basis.
• In the early stages of active use of antimalarial drugs (for example, "Delagil" or "Rezokhin"), which reduce the sensitivity of skin to light.
• Required 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 in the complex vitamins of group B.
• If the skin develops flaky scales, then they must be treated with ointments, which are based on corticosteroids.
• If the skin develops warts, 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 agents that weaken the allergic reaction.
• With active treatment of the patient's skin, for example in the 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 the oncologist, but also periodically examined by a group of other specialists: dermatologist, ophthalmologist and neuropathologist.
• Neoplasms on the skin, even warty ones, are subject to surgical removal.