Mal de Meleda is a special form of erythrokeratoderma. Affected patients suffer from the disease from birth. A main symptom of Mal de Meleda is a so-called palmoplantar keratosis, which develops symmetrically on both sides. Over time, the symptoms spread to the backs of the hands and feet. The disease is sometimes referred to by the synonyms keratosis palmoplantaris transgrediens or Meleda disease.
What is Mal de Meleda?
According to Definitionexplorer, Mal de Meleda is a genetic disease. The name derives from an island in Croatia where the disease was first observed. It is also believed that the Mal de Meleda occurs more frequently there than in other places.
The disease was first described in 1934 by a dermatologist from Yugoslavia. In addition, a dermatologist from Germany is counted among the first to describe the Mal de Meleda. The two doctors are Franjo Kogoj and Hermann Siemens.
In principle, it is still not known exactly how often the Mal de Meleda occurs. What is certain, however, is that the Mal de Meleda is inherited in an autosomal recessive manner. In addition, more male patients are affected by Mal de Meleda than females. Mal de Meleda is primarily a skin disease.
The so-called palmoplantar keratosis is in the foreground. This causes changes in the skin of the hands, feet, wrists and ankles. The diseased areas of skin appear raised and hard. In some cases, the affected areas of skin 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 of the affected people suffer from excessive sweat production (medical term hyperhidrosis ).
Causes
Mal de Meleda is a hereditary disease. For this reason, a mutation in a gene is the cause of the development of the Mal de Meleda. Specifically, the mutation occurs on the so-called SLURP1 gene.
This gene contains information for a specific protein and how it interacts with other proteins. The protein is involved in processes in skin cells and causes the corresponding symptoms due to the genetic defect. Mal de Meleda is inherited in an autosomal recessive pattern.
Symptoms, Ailments & Signs
Mal de Meleda is associated with a variety of different characteristics and ailments. Depending on the individual case, it is possible that the symptoms will differ slightly from person to person, for example with regard to their degree of severity or the combination of individual symptoms. It is typical of Mal de Meleda that the clinical picture develops in affected patients as early as infancy.
The main symptom of Mal de Meleda is erythrokeratoderma, which appears symmetrical and has a clear demarcation from the surrounding skin areas. In addition, it usually occurs in connection with hyperkeratosis. In the majority of cases, this has a relatively dark pigmentation. It is also possible that further hyperpigmentation may develop, which is often reminiscent of nets in appearance.
Diagnosis & course of disease
The characteristic symptoms of Mal de Meleda usually indicate the presence of the disease relatively clearly. If the disease is suspected, the symptoms must be urgently clarified by a doctor. He first conducts a patient consultation in which he finds out about the main signs of illness and past illnesses.
Also, the doctor takes a family history, analyzing the patient’s genetic dispositions. In the second step, various methods of investigation are used. The doctor carefully selects the diagnostic procedures in order to make a reliable diagnosis. The external symptoms of the skin are often easy to classify. A genetic analysis is performed to confirm the diagnosis of Mal de Meleda. In this way, the gene mutation responsible for the Mal de Meleda can be detected.
Complications
In most cases, Mal de Meleda disease causes symptoms at a very young age. These can also occur immediately after the birth of the child. It is not uncommon for Mal de Meleda to also lead to psychological complaints and depressive moods in 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 problems, 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.
Children can also develop psychological problems or depression as a result of the social problems, which significantly reduces the quality of life of those affected. Direct treatment of Mal de Meleda disease is usually not necessary. Only a few symptoms can be alleviated if the person concerned wishes to be treated themselves. There are no further complications or complaints.
When should you go to the doctor?
If abnormalities of the skin are found when the child is born, further examinations and medical tests are necessary to clarify the causes. In most cases, obstetricians or paediatricians take on this task automatically, since they examine the baby’s skin immediately after delivery during the initial examination. If the child is considered free of symptoms and inconspicuous at birth, the symptoms of the disease can only develop later in the development process due to a genetic disposition. Symmetrical skin changes in infancy are the first cause for concern. If you have skin changes on your hands or feet, you need to see a doctor.
If the skin becomes discolored or if cornification is noticed in the growing child, a doctor should be consulted. If the skin changes spread further, a doctor should be consulted immediately. Typical for the Mal de Meleda is an exclusive change in the skin on the hands and feet. Other areas of the body show no peculiarities or abnormalities. In the case of hyperpigmentation, it is necessary to clarify the cause. If the pigmentations form a pattern in their arrangement that is similar to that of a network, this can be an indication of Mal de Meleda disease. A doctor should be consulted so that a diagnosis can be made.
Treatment & Therapy
Treatment of Mal de Meleda is symptomatic, since it is not possible to eliminate the causes. Because so far there are no known ways to change the gene mutations. The focus is therefore on symptomatic treatment approaches for skin complaints. Various medications are available here that bring relief to the diseased areas of the skin.
Genetic counseling is also offered to affected patients in numerous cases. In this way, the risk of illness in possible children of the patients can be better assessed and weighed up. Basically, it is important to diagnose the disease as early as possible. Because this makes it possible to start therapy earlier, so that the quality of life of people suffering from Mal de Meleda increases.
Outlook & Forecast
The prognosis of the genetic disease is unfavorable. Due to a genetic defect, the health disorders remain constant over the lifespan. Without the use of medical care, there is no improvement in the complexion. Because the modification of human genetics is beyond the reach of medical professionals and scientists, medical treatment focuses on reducing existing symptoms. The aim is to provide the affected skin areas with sufficient care so that the pigmentation is perceived as less unpleasant.
Since it is a genetic disease, this means that the usual symptoms can be expected to return when the drug therapy that has been initiated is discontinued. Therefore, lifelong treatment is often required to achieve lasting changes. In most cases, the quality of life of those affected is restricted due to the visual abnormalities and states of emotional stress are present. This increases the risk of developing a mental illness. These possible developments should be taken into account when making the forecast. 7
Prevention
Currently, no preventive procedures are known or tested with regard to the Mal de Meleda. Since it is a disease with hereditary causes, prevention is not possible.
Aftercare
The aftercare measures for skin diseases usually depend very much on the exact disease, so that no general prediction can usually be made. However, all skin diseases must first and foremost be evaluated and treated by a doctor to avoid further complications or discomfort. The earlier this disease is recognized and treated by a doctor, the better the further course, which is why the person concerned should consult a doctor as soon as the first symptoms and signs appear.
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, these diseases are treated by applying creams or ointments and taking medication.
The person concerned should pay attention to regular use and the right dosage in order to permanently relieve the symptoms. Regular check-ups by a doctor are very important. In most cases, the 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 order to strengthen one’s own self-confidence in dealing with the disease. Under these conditions, the visual changes in the complexion of some of those affected can be classified as less unpleasant.
You can do that yourself
Parents whose child has been diagnosed with Mal de Meleda should have a comprehensive consultation with a specialist. The medical professional can educate the parents about treatment options and provide tips on how to manage the symptoms through everyday measures.
The typical erythrokeratoderma can at least be reduced by good skin care and the use of soothing ointments. Accompanying the medical measures, homeopathic remedies can also be used, such as Apis mellifica or the pain-relieving Hepar sulfuris. Those affected can reduce possible hyperpigmentation by adequate sun protection and avoidance of direct sunlight. Here, too, various creams and ointments can be used as an accompanying measure. Cosmetics should always be checked for any artificial ingredients before use. In severe cases of hyperpigmentation, a therapeutic consultation is necessary.
Especially for children and young people, the skin disease represents a serious psychological burden that must be worked through in a discussion with a psychologist. Genetic counseling is indicated later in life in order to be able to reliably assess the risk of inheritance to possible children.