Mal de Meleda is a particular form of erythrokeratoderma. Affected patients suffer from the disease from birth. A major symptom of mal de meleda is a condition called palmoplantar keratosis, which develops symmetrically on both sides. Over time, the symptoms spread to the backs of the hands and feet. In some cases, the condition is referred to by the synonyms keratosis palmoplantaris transgrediens or Meleda disease.
What is mal de meleda?
Mal de Meleda represents a genetic disorder. The name is derived from an island in Croatia where the disease was first observed. It is also believed that mal de meleda is more common there than in other places. The disease was first described in 1934 by a dermatologist from Yugoslavia. In addition, a dermatologist from Germany is also believed to be among the first describers of mal de meleda. The two physicians are Franjo Kogoj on the one hand and Hermann Siemens on the other. Basically it is not known until today exactly how often the Mal de Meleda occurs. However, it is certain that Mal de Meleda is an autosomal recessive disease. In addition, mal de meleda affects more males than females. Mal de meleda is primarily a skin disease. The so-called palmoplantar keratosis is in the foreground. Here, changes occur on the skin of the hands, feet, wrists and ankles. The diseased skin areas appear raised and hard. In some cases, the affected skin areas become inflamed, which is usually accompanied by an unpleasant odor. In addition, patients suffering from mal de meleda often have shortened fingers and toes. The nails may also be affected by abnormalities. The skin around the mouth often appears reddish, and some affected individuals also suffer from excessive sweat production (medical term hyperhidrosis).
Causes
Mal de meleda is a hereditary disease. For this reason, a mutation on a gene is the cause of mal de meleda. Specifically, the mutation occurs on the so-called SLURP1 gene. This gene contains information for a specific protein and its interaction with other proteins. The protein is involved in processes in cells of the skin and causes the corresponding symptoms due to the gene defect. The inheritance of mal de meleda follows an autosomal recessive pattern.
Symptoms, complaints, and signs
Mal de meleda is associated with a variety of different characteristic features and symptoms. Depending on the individual case, it is possible that symptoms may differ slightly from one person to another, for example, in terms of their severity or the combination of individual symptoms. It is typical for mal de meleda that the clinical picture develops in affected patients already in infancy. The main symptom of mal de meleda is erythrokeratoderma, which appears symmetrical and has a clear demarcation from the surrounding skin areas. It also usually occurs in association with hyperkeratosis. In the majority of cases, this has a relatively dark pigmentation. It is also possible that other hyperpigmentation may develop in some cases, often resembling reticulation in appearance.
Diagnosis and course of the disease
The characteristic symptoms of mal de meleda usually indicate the presence of the disease relatively clearly. If the disease is suspected, the symptoms should be urgently clarified by a physician. The physician first conducts a patient interview in which he or she learns about the main signs of the disease and past illnesses. The physician also takes a family history, analyzing the patient’s genetic disposition. In the second step, various examination procedures are used. The physician chooses the diagnostic procedures carefully in order to make a reliable diagnosis. The external symptoms of the skin are often easy to classify. To confirm the diagnosis of mal de meleda, a genetic analysis is performed. In this way, the gene mutation responsible for mal de meleda can be detected.
Complications
In most cases, symptoms of mal de meleda occur at a very young age.These can also occur directly after the birth of the child. Not infrequently, mal de meleda also leads to psychological complaints and depressive moods in the parents and relatives, so that they are dependent on a psychological examination. Furthermore, pigmentation disorders occur, so that most patients suffer from hyperpigmentation. This can lead to social discomfort, with children in particular being bullied or teased. In most cases, the pigmentation is relatively dark. Life expectancy itself is not limited by the disease in most cases. Due to the social discomfort, children can also develop psychological complaints or even depression, which significantly reduces the quality of life of those affected. A direct treatment of the disease Mal de Meleda is usually not necessary. Only some complaints can be alleviated if the affected person wishes the treatment himself. This does not result in further complications or discomfort.
When should one go to the doctor?
If abnormalities of the skin are noticed at the birth of the child, further examinations and medical tests are necessary for clarification of the causes. In most cases, obstetricians or pediatricians automatically perform this task, as they assess the skin condition immediately after delivery in the infant’s initial examination. If the child is considered symptom-free and inconspicuous at birth, the symptoms of the disease may nevertheless develop only in the further course of development due to a genetic disposition. If symmetrical changes in the skin occur in infancy, this is the first cause for concern. In case of skin changes of the hands or feet, a visit to the doctor is necessary. If there is discoloration of the skin or if cornification is noticed in the growing child, a doctor should be consulted. If the skin changes spread further, a visit to the doctor should be made immediately. Typical for Mal de Meleda is an exclusive change of the skin appearance on the hands and feet. Other areas of the body show no peculiarities or abnormalities. In the case of hyperpigmentation, clarification of the cause is necessary. If the pigmentations form a pattern in their arrangement, which is similar to that of a net, this can be an indication of the disease Mal de Meleda. A physician should be consulted so that a diagnosis can be made.
Treatment and therapy
Treatment of mal de meleda is symptomatic, since it is not possible to eliminate the causes. This is because, to date, there are no known ways to alter the gene mutations. Thus, symptomatic treatment approaches of the skin complaints are in focus. Here, various drugs are available that provide relief for the diseased skin areas. In addition, genetic counseling is offered to affected patients in numerous cases. In this way, the risk of disease in possible children of the patients can be better assessed and weighed. In principle, it is important to diagnose the disease as early as possible. This is because it allows a more timely start of therapy, so that the quality of life of those suffering from mal de meleda increases.
Outlook and prognosis
The prognosis of the genetic disease is unfavorable. Due to a genetic defect, health disorders remain constant over the lifespan. Therefore, without seeking medical care, there is no improvement in skin appearance. Since the alteration of human genetics is not allowed to be done by medical doctors and scientists, medical treatment focuses on the reduction of the existing symptoms. The goal is to provide sufficient care to the affected skin areas so that the pigmentation is perceived as less unpleasant. Since it is a genetic disease, this means that with a discontinuation of an initiated medical therapy, a return of the usual symptoms is to be expected. Therefore, lifelong treatment is often required to achieve lasting changes. In most cases, the quality of life of those affected is limited due to the visual abnormalities and states of emotional distress are present. This increases the risk of developing a mental illness. These possible developments should be taken into account when making the prognosis.7
Prevention
Currently, no preventive procedures are known or have been tested with regard to mal de meleda. Because it is a disease with hereditary causes, prevention is not possible.
Follow-up
In skin diseases, the measures of an aftercare usually depend very much on the exact disease, so no general prediction can be made in this regard. However, all skin diseases must first and foremost be examined and treated by a doctor to prevent further complications or discomfort. The earlier the disease is detected and treated by a doctor, the better the further course of the disease, which is why the affected person should see a doctor at the first symptoms and signs. Since some skin diseases are contagious, contact with other people should be avoided. A high standard of hygiene can also have a positive effect on the course of such diseases. In most cases, the treatment of these diseases is carried out by applying creams or ointments and taking medications. The affected person should pay attention to a regular application and also to the correct dosage in order to alleviate the complaints permanently. Regular checks by a doctor are very important. In most cases, skin diseases do not have a negative effect on the life expectancy of the affected person. Contact with other sufferers can also be helpful in strengthening one’s own self-confidence in dealing with the disease. Under these conditions, the visual changes in the skin appearance can be classified as less unpleasant in some affected persons.
What you can do yourself
Parents whose child has been diagnosed with mal de meleda are advised to have a comprehensive discussion with a medical specialist. The medical professional can educate parents about treatment options and offer tips on how to relieve symptoms through everyday measures. Typical erythrokeratoderma can at least be reduced by taking good care of the skin and applying soothing ointments. Homeopathic remedies can also be used to accompany the medical measures, such as Apis mellifica or the pain-relieving Hepar sulfuris. Those affected can reduce possible hyperpigmentation by using adequate sun protection and avoiding direct sunlight. Various creams and ointments can also be used as an accompanying measure. Cosmetic products should always be checked for any artificial ingredients before use. In severe cases of hyperpigmentation, therapeutic consultation is necessary. For children and adolescents in particular, the skin disease represents a serious psychological burden which must be worked through in consultation with a psychologist. Later in life, genetic counseling is indicated to reliably assess the risk of inheritance to possible children.
