Epidermodysplasia verruciformis is a disease of the skin that is present in patients from birth. In the context of epidermodysplasia verruciformis, a so-called generalized verrucosis develops in a very extreme form. Epidermodysplasia verruciformis is extremely rare and increases the risk of developing skin cancer. In addition, the skin of affected individuals is particularly sensitive to certain human papillomaviruses.
What is epidermodysplasia verruciformis?
Epidermodysplasia verruciformis is also known synonymously as Lutz-Lewandowsky epidermodysplasia verruciformis. The disease is usually inherited in an autosomal recessive manner. Epidermodysplasia verruciformis is very rare and belongs to the so-called genodermatoses, i.e. congenital diseases of the skin. Patients are unusually susceptible to infections with HP viruses. As a result of these infections with the viruses, spots, scales and papules appear on the skin. These skin abnormalities primarily affect the hands and feet of the patients. The anomalies grow uncontrollably and, depending on the individual case, lead to conspicuous appearances on the corresponding parts of the body. In the majority of cases, epidermodysplasia verruciformis manifests for the first time between the ages of one and twenty. However, in some cases, the disease first appears in midlife adults. The synonymous disease name refers to the two physicians who first described the disease scientifically. These are Lutz and Lewandowsky.
Causes
Epidermodysplasia verruciformis is a genetic disorder of the skin that is present from birth in affected individuals. Genetic defects on two genes called EVER1 and EVER2, located in the region of the 17th chromosome, lead to the development of epidermodysplasia verruciformis. Due to the genetic defect, the skin of the patients is enormously susceptible to infections with HP viruses. The genetic defect usually arises as a result of a mutation. The affected genes are involved in the control of the substance zinc in the nucleus of cells. Various studies have shown that zinc plays an important role in viral proteins. The HP viruses of type V and VIII pose a particular threat to affected patients. These viruses are present in about 80 percent of people, but they do not usually cause any comparable symptoms in healthy individuals. Other types of human papillomaviruses are also possible triggers for epidermodysplasia verruciformis.
Symptoms, complaints, and signs
Epidermodysplasia verruciformis manifests itself in individual cases with very different appearances on the skin. Scaling skin areas, warts, and papules are typical of epidermodysplasia verruciformis. The abnormalities occur primarily on the hands, feet, trunk, and facial area. Sometimes the skin lesions appear as reddish to brownish patches. In more severe cases, outgrowths develop from the scaly and wart-like skin areas. In extreme cases, this significantly limits the functions of the hands and feet. Reddish or pinkish papules often develop around the limbs.
Diagnosis
The diagnosis of epidermodysplasia verruciformis is usually made by a specialized dermatologist. The rarity of the disease sometimes means that diagnosis takes a relatively long time. The patient describes the individual clinical picture to the physician and explains the time of the first manifestation of the disease. A family history is usually also taken. In this way, the physician obtains important information regarding potential comparable cases in the patient’s family. This quickly narrows down the spectrum of possible diseases and speeds up the diagnosis. As part of the clinical examination, the physician first takes a visual look at the affected skin area. The typical papules, spots and warts as well as possibly skin carcinomas indicate epidermodysplasia verruciformis. Sometimes the skin changes appear on the entire body surface. In many patients, however, they are limited to certain areas, such as the limbs. The dermatologist determines whether it is a benign or malignant expression of epidermodysplasia verruciformis.In the benign form, patients have only benign skin lesions such as warts or papules. In contrast, various types of skin cancer are present in the malignant variant of epidermodysplasia verruciformis.
Complications
Due to epidermodysplasia verruciformis, various symptoms and complications may occur. In this case, the patient has an increased risk of skin cancer and, in the worst case, may die from it. As a rule, however, this case rarely occurs, although the patient must avoid direct sunlight and always protect his skin. This can lead to restrictions in everyday life. The skin is also particularly sensitive to certain viruses and can react with rashes, warts or papules. These can not only lead to pain, but also attract negative visual attention, so that the patient suffers from inferiority complexes and reduced self-esteem. Social contacts are often avoided, which can also manifest itself in psychological problems. The affected person must also be examined more often for skin cancer. If this occurs, it can be surgically removed and there are no further complaints or complications. However, causal treatment and cure of epidermodysplasia verruciformis is not possible, so the affected person will be dependent on skin cancer screenings and strong sun protection throughout his or her life. Life expectancy is not reduced if tumors do not develop or are removed in a timely manner.
When should you see a doctor?
If the skin of a newborn child shows particular abnormalities, they should be examined by a doctor in the first days of life. Scaling on the face, hands, feet or torso is considered unusual and should be medically clarified. If there is swelling of the skin and the formation of poplars or warts, a visit to the doctor is necessary. If the symptoms spread or increase in intensity, it is advisable to consult a doctor. If skin discoloration appears, or if there are discomforts in the perception of temperature and touch, a visit to the doctor should be made. If intolerance reactions occur due to the use of creams, cosmetics or ointments, a doctor should also be consulted. In order not to suffer recurring skin reactions, it should be found out which active substances have led to the hypersensitivity. If the functionality of hands or feet is limited due to the symptoms, a doctor is needed. Malpositions and damage to the skeletal system may occur and need to be corrected and treated. If emotional problems occur due to the skin abnormalities, it is recommended to seek the help of a doctor or therapist. In case of depressed mood, withdrawal behavior, aggression or feelings of inferiority, it is advisable to consult a doctor.
Treatment and therapy
At the present time, effective measures for the therapy of epidermodysplasia verruciformis have not yet been sufficiently developed. A long-term cure for the disease is currently impractical. Sometimes patients are treated with drugs, and the physician usually prescribes interferons or the active substance acitretin. If tumor-like changes develop on the skin, they are usually surgically removed. In this way, malignant carcinomas of the skin are prevented. It should be noted that individuals with epidermodysplasia verruciformis carry an increased risk of squamous cell carcinoma. Accordingly, regular check-ups with a physician in conjunction with skin cancer screenings are necessary. This allows timely intervention in case of malignant changes of the skin.
Outlook and prognosis
The prognosis of epidermodysplasia verruciformis is described as unfavorable. The gene disease cannot be cured based on current legislation. Alteration of genetics is not permitted under current legal guidelines. Therefore, symptomatic therapy takes place, the efficacy of which must be evaluated on an individual basis. In some patients, drugs can be found that are well accepted by the organism. Improvements in the appearance of the skin occur and the overall symptoms are minimized. Nevertheless, there is no prospect of a cure. As soon as the drugs are discontinued, a worsening and regression of the symptoms is to be expected.Normally, the existing active ingredients of the drugs alone do not provide sufficient relief. In many cases, abnormalities or visually unpleasant areas of skin must be removed by surgical intervention. The usual risks and side effects must be taken into account. In addition, a recurrence of the skin changes is possible at any time despite an extension. In the case of a severe course of the disease, malignant developments of the skin occur. Carcinomas develop, which must be treated as quickly as possible. If there are delays within the treatment or if the skin cancer is not noticed, a fatal course can develop. In addition to the physical abnormalities, psychological problems may occur. This further worsens the overall prognosis of the affected person.
Prevention
Epidermodysplasia verruciformis represents a skin disorder that is based on a genetic defect and is congenital. Medical research is not currently advanced enough to prevent hereditary diseases such as epidermodysplasia verruciformis. Early diagnosis is therefore all the more important.
Follow-up
In most cases, there are no particular aftercare options available to the affected person with epidermodysplasia verruciformis. For this reason, affected individuals are primarily dependent on a rapid and, above all, early diagnosis of the disease in order to prevent further complications or symptoms. It cannot be predicted whether epidermodysplasia verruciformis will also reduce or otherwise limit the patient’s life expectancy. In general, however, early detection of the disease always has a positive effect on its further course. In most cases, patients with this disease are dependent on taking medication to alleviate the symptoms. The doctor’s instructions should always be followed. If there is any doubt or ambiguity, a doctor should always be contacted first. It is not uncommon for surgical interventions to be necessary in order to remove the tumors. After such interventions, the affected person should always rest and take care of his body. Efforts or other stressful activities should be refrained from. Regular examinations of the body should be performed even after the successful removal of the tumors. A complete cure of epidermodysplasia verruciformis is not possible in many cases.
What you can do yourself
Since epidermodysplasia verruciformis increases the risk of skin cancer, it is advisable for the patient to take special protection from exposure to UV radiation. In everyday life, direct exposure to the sun should be avoided. The body should be covered as completely as possible with clothing or by accessories such as caps and hats. Visible areas of skin should be comprehensively protected by applying a sunscreen. Care should be taken to use a high sun protection factor, which should not be less than a value of 20. Visiting a solarium should be avoided, as the risk of skin cancer also increases due to the influence of artificial irradiation. The patient of epidermodysplasia verruciformis suffers from high susceptibility to HP viruses. For this reason, comprehensive protection against the viruses in everyday life is highly recommended. Unprotected sexual intercourse should be avoided. In addition to using a condom, it is recommended to refrain from frequent changes of partners. Since the viruses are transmitted through skin contact, it is advisable to avoid this with strangers and also to use disinfectants regularly. If possible, visits to public toilets should be avoided. Protective gloves can be worn in public facilities or areas of increased risk of infection. In swimming pools, it is advisable to avoid walking barefoot.
