Presenting a fairly rare skin lesion, porphyria is an auto-somnoid disease that manifests itself in metabolic disorders and the formation of the red pigment of the blood. The mutation of the gene responsible for the synthesis and assimilation by the body of the red constituent hemoglobin-heme, leads to an excessive release of the body through feces and urine, which gives them a pronounced reddish hue. Microparticles of heme of red color, excreted by the excretory system, also give a certain shade to the proteins of the eyes, teeth and gums. The onset of the disease can be triggered by factors such as gastrointestinal disorders, mental illnesses, hemolytic processes in the body, as well as photodermatosis.
The effect of this disease is noted not only on the internal organs, but also on the appearance of the patient: there is a significant thinning of the skin, it acquires a bright brown color, and when exposed to the sun, scars and blisters are formed on it that leave noticeable scars behind. There is also a frequent negative effect on the state of the cartilage in the nose and ears, which disfigures the appearance of the patient. Certain features of this disease make it similar in the classic description of vampires who are afraid of sunlight, have a red color of eye proteins and feed on blood.
Features of the pathology
This lesion of the skin, like porphyria, occurs approximately equally often in both men and women. There is also a congenital form of this disease, when a newborn has a bright red urine, with time, teeth appear with a reddish glow, and then there is a significant increase in the spleen.
On the skin under the influence of sunlight, significant ulcers and blisters are formed in size, which burst as ripening, scars that do not pass through life remain on the skin. Ulcers and skin lesions in infants are rapidly inseminated by bacteria, leading to secondary infection and overall deterioration. However, the congenital form of the disease is not very common. Adult people are most prone to cutaneous porphyria.
With age, this lesion is less common, but there are cases of diagnosing skin porphyria and in old age, when the skin becomes sensitive to sunlight, appearances and blisters appear on it. Teeth also acquire a reddish color. Changes in the functioning of internal organs are manifested in the form of failures in their work and deterioration of the general condition of the patient.
Classification of
Today there is a classification that is used to separate the subspecies of the disease in question. There are two types of this disease, which have a number of differences in external manifestations and require a somewhat different therapeutic effect. To these varieties of the disease it is customary to include:
- hepatic;
- is erythropoietic.
Depending on the degree of manifestation, porphyria can also be classified, there is a division into the following types:
- porphyria with acute , in which there are clear manifestations of the moment of crises and remission periods, when the characteristic symptomatology is significantly reduced, pain is reduced;
- is a disease with the chronic course of , which is characterized exclusively by cutaneous manifestations. At the same time, organic negative changes are not expressed very clearly.
In its turn, the acute variety of porphyria has its gradation:
- acute intermittent porphyria;
- porphyria, characterized by an acute shortage in the body of dihydratase of aminolevulinic acid;
- variegated variety;
- is an hereditary form that passes from mother to child.
The disease, which has a chronic course and is characterized only by skin lesions, has the following species division:
- congenital erythropoietic porphyria;
- late cutaneous porphyria;
- erythropoietic protoporphyria.
Such a significant number of different classifications makes it possible to classify an identified skin lesion to a specific species that requires a specific therapeutic effect, which will allow both to remove the characteristic symptomatology and to eliminate the cause that caused this defeat.
The acute and intermittent porphyria is the subject of the following video:
Causes of
The most frequent reasons for the appearance of signs of any kind of porphyria include gene gene mutations that provoke changes in the biosynthesis of hemoglobin and its components. This can be a hereditary factor that is transmitted from parents to children. Therefore, in the presence of porphyria, one of the parents should be diagnosed before deciding to have a baby, as well as further monitoring by the attending physician of the gestation process.
Also for probable reasons, causing porphyria of any kind, include:
- prolonged exposure to the sun( excessive insolation);
- starvation with a reduced amount of carbohydrates in incoming food;
- frequent transfer of infections with their severe course;
- adolescence, when there is hormonal restructuring.
Symptoms of cutaneous porphyria
External manifestations of any kind of porphyria are quite typical, which makes it possible to conduct an examination of skin in the early stages. The most obvious manifestations of this disease include this symptomatology:
- a change in skin tone - it becomes bright brown with a reddish tinge;
- teeth also acquire a red tint;
- on the skin, when exposed to it, there are numerous ulcers, blisters, which then burst, leaving the skin permanently non-healing scars;
- , the eye proteins become pink;
- marked changes in the state of the cartilage of the nose and ears, which has a dramatically negative effect on the appearance of the patient;
- urine has a brownish-red color.
In the manifestation of porphyria, there are also changes in the psyche and behavior of the patient: it becomes less psychologically and emotionally stable, it has frequent nervous breakdowns, the mood undergoes frequent changes.
Late cutaneous porphyria( photo)
Diagnosis
- The diagnostic procedure is based on external examination of the patient, after which blood, urine are taken for carrying out laboratory tests.
- Particles of the skin can also be taken from the modified areas for biopsy.
Treatment of
In case of detection of the first manifestations of cutaneous pathology, it is necessary to apply to the medical institution as soon as possible for a full examination, which will allow to start the necessary treatment in time. To eliminate the most characteristic manifestations, which significantly adversely affect the patient's health and self-esteem, the following methods of influence should be used:
- therapeutic, which shows positive results in the early stages of the disease;
- is medicated, which is most effective in this serious skin lesion.
In a diagnosis such as porphyria, the patient usually requires hospitalization, which prevents the risk of complications.
Porphyria, its treatment and features are discussed in this video:
Therapeutic way
To eliminate the initial manifestations of this condition, a general refusal to stay in the sun, the maximum protection of skin from sun rays, is usually used. Also, to enhance the process of immune protection, multivitamin preparations can be prescribed, which ensure better functioning of the immune system.
However, the most effective is the medical method of treatment, which allows you to remove the characteristic manifestations of the disease, and affect its causes.
Medication method
For the stabilization of the patient's condition, the following medicines can be used in complex therapy:
- opiates, which provide rapid relief of the pain syndrome. The usual painkillers basically provoke an increase in the existing symptoms;
- course of plasmapheresis, which are carried out only in conditions of hospitalization of the patient;
- Hem Arginat - a drug that effectively combats the manifestations of porphyria and removes its main manifestations.
To block the development of tachycardia and arrhythmia, adrenoblockers are prescribed. The entire course of treatment should be carried out only on the prescription of the attending physician and its control, which avoids the possible side effects and worsening of the patient's condition.
Operation
Surgical treatment for cutaneous porphyria is usually not applied.
Prevention of the disease
- As a preventive measure, it is recommended to avoid frequent insolations, the use of sunscreens for the skin.
- Also avoid excessive dietary restrictions, do not abuse drugs and alcohol.
Complications of
The complications after a previous illness include the possibility of a significant deterioration in the overall condition of the immune system, the appearance of scars on the skin after blisters and ulcers, as well as exacerbation of the internal organs: kidneys, liver, urinary tract. Modifications of the cartilage in the advanced stages of porphyria also usually remain.
Forecast
When a crisis occurs, when there is a significant manifestation of the existing symptoms, the likelihood of death with the most severe symptoms of this lesion in the absence or lack of necessary treatment is 80-92%. However, with the use of modern medicines, psychotherapy sessions, elimination of internal organ dysfunctions, the likelihood of a lethal outcome is significantly reduced and can be 12-17% in the case of porphyria diagnosis.
In this video you will find even more useful information about skin porphyria: