Xeroderma pigmentosa: causes and treatment
Recently, oncopathology is increasingly spreading around the world. Various types of cancer are distinguished, from the lesion of internal organs to the pathology of the skin pack. Timely complex treatment will help to avoid serious complications, so it is important to identify the disease at an early stage. For this you need to know its main features.
Pigment xeroderma, or the so-called malignant lentigo (pigment atrophoderma), is a rare disease that affects the skin. The disease is genetic, that is, is hereditary. Xeroderma can cause cancer.
This disease is rare because it is transmitted, as a rule, to children born from marriage with a close relative, which is most often found in the case of isolates (people who form separate settlements due to geographical or religious features). The largest number of xeroderm pigment cases in Brazil has been reported.
Etiology of the disease
Since xeroderma is a disease of genetic etiology, it is characterized by pathology inherited by children, which affects the enzymes responsible for protecting the skin from ultraviolet radiation. In the case of xeroderma, these enzymes are either completely absent or do not work properly.
With age, cells that have undergone genetic mutations become more and more, which leads to the development of cancer. Strong susceptibility to the influence of ultraviolet radiation and radiation - factors that affect the progress of the formation of pathogenic cells and, as a consequence, the pigment xeroderma.
What are the provoking factors affecting?
Prolonged exposure to the sun with hypersensitivity to ultraviolet radiation and radiation can cause the following pathologies:
1. Broken pigmentation.
2. The keratinization of the skin.
3. Atrophy of the epidermis.
4. Thinning connective tissues.
5. Atypia at the cell level.
6. Pre-cancerous condition.
As with any pathology, xeroderma has a number of comorbidities, such as syndactyly (fusion of the fingers), tissue degeneration (baldness, growth retardation and deterioration in the condition of the teeth).
Causes of Xeroderma pigmentosa
This disease appears as a result of the transfer of an autosomal gene from parent to child. To do this, parents must be in a close relationship (in other words, incest). In this case, it is a family disease. Another cause of xeroderma is the small amount or the complete absence of the UV enzyme in fibroblasts (connective tissue cells).
Lack of RNA polymerase (ribonucleic acid producing enzyme) can also cause the development of xeroderm. In this case, the disease is provoked by abnormal ultraviolet exposure.
Some scientists believe that xeroderma pigmentosa (the photo below demonstrates how the disease manifests itself on the face) may also appear as a result of an increase in the number of porphyrins in the human body and photosensitizers getting into the blood.
The clinical course and symptoms of the disease
Xeroderma has three stages of development:
1. The first symptoms appear in children under three years of age. Their manifestation is usually associated with a long stay in the sun, especially during periods of high solar activity (in spring and summer).The skin begins to peel off, and then become covered with uneven hyperpigmentation spots and freckles. Symptoms of xeroderma pigmentosa are not limited to this.
2. After several years, clinical signs of xeroderm appear. From this point on, doctors diagnose the second stage of the disease. Atrophy signs, spider veins and pigmentation spots appear on the skin of a sick person. In appearance, the manifestations on the skin are reminiscent of signs of radiation dermatitis. Ulcers, cracks, blemishes and crusts appear on parts of the skin. In some cases, growths that look like warts are possible. In addition to the skin, the lesion overtakes the cartilage and connective tissue. Atrophy of the cartilages of the nose and ears, deformation of the mouth and nose occurs. The disease is accompanied by the occurrence of blepharitis (inflammation of the ciliary edge of the eyelid), ulcers on the mucous membrane of the eyes, and inversion of the eyelids. Eyelashes can stop growing, with corneal clouding of the eye occurs, tearing and photophobia appear.
3. The third stage of xeroderma begins in puberty. It is characterized by the appearance of neoplasms of various etiologies (benign or malignant).These can be fibromas, melomas, keratomas, angiosarcomas, and so on. Warts appearing in the second stage can become malignant and metastasize to peripheral organs.
Pigment xeroderma may be accompanied by severe mental retardation of a sick child.
Signs of severe form
There are two syndromes: Reed and De Sanctis-Caccione. The first slows the growth of the bone marrow, accompanied by microcephaly (a decrease in the size of the child’s skull) and mental and mental retardation. De Sanctis-Cacqueon syndrome, or xerodermic idiocy, is considered a more severe form. When it occurs, there is a disturbance in the functioning of the central nervous system with the following symptoms: mental retardation, microcephaly, convulsions, deafness, atrophy of the pituitary and cerebellum, delayed puberty, miscarriages in the child-bearing age. What is the diagnosis of pigment xeroderma?
For the detection of Xeroderma pigmentosa, first of all, a monochromator is used, a special optical-mechanical device for examining the skin. This analysis reveals the degree of sensitivity of the skin toultraviolet radiation.
To confirm the diagnosis, a dermatologist gives the patient a referral for a biopsy. This is a study of tissues in the laboratory for the detection of neoplasms. For analysis, take material from the newly emerged formations. In this case, they can be completely removed, if their location on the body allows. The material is taken with a scalpel or with the help of surgical power tools. Small tumors are taken entirely, large partially with the capture of a healthy area of skin.
The puncture is taken with a syringe with a needle tube. The so-called punctate (fluid from a neoplasm) is being investigated. For the sample taken, histology is carried out, the purpose of which is to clarify the diagnosis, identify the possibility and type of subsequent therapy, determine the stage of the disease and the degree of cell damage. The histological conclusion includes the description of the study and the nosological conclusion.
Treatment of pigment xeroderma
If xeroderma was detected at the first stage, its treatment is carried out on an outpatient basis. The child is registered with a dermatologist with the obligatory regular visits to the doctor for consultation.Therapy is carried out by taking antimalarial drugs such as Hingamin, Rezokhin, and Delagil. They reduce the sensitivity to ultraviolet light.
In addition, it is important to strengthen the immunity of a child suffering from xerodermia. Therefore, it is prescribed the intake of vitamins A, PP (nicotinic acid), as well as vitamins of group B. Peeling on the skin are treated with various ointments, which include corticosteroids, warty formations - ointments based on cytostatics. These ointments slow down the growth and reproduction of cells of all kinds.
During exacerbation, the patient is also given anti-allergic (includes taking Tavegil, Suprastin, etc.) and desensitizing therapy (10% calcium chloride and sodium thiosulfate are administered intravenously). The complex also prescribes the use of photoprotective agents - sprays, creams and ointments. This prevents UV exposure during periods of solar activity.
Accounting with an oncologist
In case of malignancy of cells, the patient is registered with an oncologist. If the patient has the above described De Sanctis-Cacqueon syndrome, the treatment is carried out in special clinics under the supervision of a neurologist.In order not to miss the moment of the transition of the disease to the malignant stage, it is necessary to constantly monitor a number of specialists - a neurologist, a dermatologist, an oncologist and an ophthalmologist.
Papilomatous (warty) formations prone to malignancy (transition to malignant) must be removed surgically. In this direction, cryodestruction (freezing with liquid nitrogen), electrocoagulation and laser treatment are widespread. The latter is carried out by exposure to a specific length of the beam on the problem area of the skin. Electrocoagulation is a trivial cauterization of the formations with the help of an electric current. With this type of therapy, not only the integuments, but also the vessels are cauterized, thus avoiding bleeding.
Child protection methods
The methods of protecting children with xeroderma pigment include being outside the house only in the evening and at night. The windows in the room must be tinted to avoid exposure to excessive sunlight. When you are outdoors in the daytime, you need to wear dark glasses and headgear, and your clothes should be made of thick fabric, covering the open skin to the maximum. Various factors should also be excluded, such as:
1. Inhalation of tobacco smoke.
2Radiation - X-ray, gamma radiation, ionizing and naturally ultraviolet.
3. Exposure to mold due to toxins.
4. Chemical irritants, such as nitrites, nitrates, and so on.
Unfortunately, with xeroderma pigment projections do not inspire hope. On average, patients with this diagnosis live from ten to twenty years. But if you diagnose a disease at an early stage and constantly observe protection measures against radiation of various types, you can prolong the life of a sick child to forty years. There have been cases when a patient with xeroderma lived to be seventy years old.