Haim -Munk syndrome is a genetic disease that is very rare. Typical signs of the disease are rashes in the form of reddish, raised spots on the skin. These can also be seen on the palms of the hands and the soles of the feet. The skin is highly susceptible to infection. In addition, the fingernails and toenails of the affected patients grow excessively.
What is Haim-Munk Syndrome?
According to abbreviationfinder.org, Haim-Munk syndrome is also sometimes referred to by the abbreviation HMS. The disease is inherited in children in an autosomal recessive manner. In addition to palmoplantar hyperkeratosis, periodontitis is one of the main symptoms of the disease.
Periodontitis begins relatively early and has a severe course. Other possible symptoms of Haim-Munk syndrome include arachnodactyly, pes planus and so-called acroosteolysis. Basically, the Haim-Munk syndrome is a disease that occurs only with very low frequency.
The majority of the patients listed in the specialist literature are Indian people from an isolated community. Severe periodontitis usually leads to premature loss of teeth. In some cases, the affected patients have unusually long and slender fingers and toes.
In principle, Haim-Munk syndrome has genetic causes. The disease is passed on to future generations in an autosomal recessive way. In Haim-Munk syndrome, there is a mutation in a specific gene that causes the symptoms of the disease.
In addition to Haim-Munk syndrome, there are other diseases that are caused by mutations in the same gene. These include, for example, prepubertal periodontitis and Papillon-Lefèvre syndrome.
Symptoms, Ailments & Signs
The Haim-Munk syndrome shows numerous different symptoms and signs that point to the disease. One of the main symptoms of Haim-Munk syndrome is a keratosis, which is palmoplantar in nature and extensively spreading.
The sick people suffer, for example, from scaly skin areas, such as on the legs, knees, elbows and backs of the hands. In Haim-Munk syndrome, keratosis usually develops between the ages of one and five. In some cases, however, it is present from birth.
In addition, Haim-Munk syndrome is usually accompanied by severe and early periodontitis. Even the milk teeth are affected by periodontitis. As periodontitis progresses rapidly, it eventually affects the second set of teeth as well.
For this reason, many patients suffering from Haim-Munk syndrome lose their teeth at a young age. Periodontitis is accompanied by gingivitis in Haim-Munk syndrome. In addition, the so-called alveolar bone is broken down. In addition, the Haim-Munk syndrome leads to a number of other complaints.
Typical are hyperkeratosis, which also affects the palms of the hands and the soles of the feet, as well as acroosteolysis, onychogryposis and arachnodactyly. The fingers are often malformed and deformed. The fingertips are pointed, while the curvature is reminiscent of claws.
In addition, some of the patients develop a special form of arthritis, which severely damages the joints of the shoulders and hands. In addition, the sick people are more often than average affected by infectious diseases.
Diagnosis & History
The Haim-Munk syndrome is mainly diagnosed based on the typical clinical appearance of the disease. In principle, if you have characteristic symptoms, you should consult a doctor. Since the disease often manifests itself in childhood, the pediatrician is usually the first point of contact for the parents of the affected patients.
As part of the anamnesis, the complaints present in individual cases are clarified. Family dispositions are also discussed, since Haim-Munk syndrome is a hereditary disease. Finally, the treating doctor checks the symptoms using various examination methods. Signs such as keratosis are usually relatively easy to see and can be clearly diagnosed.
Laboratory analyzes of the affected skin areas support the suspicion. The diagnosis of Haim-Munk syndrome can be made with relative certainty if a combination of typical symptoms is present. For example, if the keratosis is accompanied by early periodontitis, a diagnosis can be made.
The diagnosis based on the clinical examination can be additionally secured if a genetic laboratory analysis is carried out. The mutation responsible for the Haim-Munk syndrome can be detected. Prepubertal periodontitis, for example, must be clarified as part of the differential diagnosis.
Haim-Munk syndrome primarily causes rashes on the skin and red spots. These complaints restrict the patient’s aesthetics and often lead to feelings of shame and inferiority complexes. A reduced self-esteem can also occur. It is not uncommon for the hands and feet to be affected by the symptoms, so that pain can also develop in these areas.
The patient’s immune system is weakened by the Haim-Munk syndrome, which means that infections and inflammation are more frequent. It is not uncommon for nail growth to increase. Those affected also suffer from problems with their teeth, so that they fall out at a young age. This leads to problems with the intake of food and liquids. Malformations occur on the fingers, which can also limit the appearance of the affected person.
Intelligence is usually not reduced by Haim-Munk syndrome. A causal treatment of the Haim-Munk syndrome is not possible. However, the symptoms can be reduced with the help of medication or surgical interventions. As a rule, the patient often has to take antibiotics to fight inflammation and infections.
When should you go to the doctor?
Although the Haim-Munk syndrome cannot be treated causally and causally, a doctor should always be consulted. This can prevent further discomfort and complications. As a rule, the doctor should be consulted if the person concerned suffers from skin problems that occur without any particular reason.
This can lead to dandruff on the knees and legs. The teeth can also be negatively affected by the Haim-Munk syndrome, leading to caries or periodontitis. If these symptoms also appear at a young age of the patient, a doctor should be consulted.
Those affected often also contract infectious diseases and have a weakened immune system. Haim-Munk syndrome can be diagnosed by a pediatrician or by a general practitioner. Further treatment is usually carried out by a pediatrician or a dermatologist. In order to avoid further complications, those affected are often dependent on regular examinations. If the Haim-Munk syndrome also leads to psychological problems or depression in the parents or relatives, a visit to a psychologist is advisable.
Treatment & Therapy
The Haim-Munk syndrome can be treated with different methods. The doctor decides on the choice of the respective treatment method. Therapy for Haim-Munk syndrome must always be planned with regard to the individual case. So-called topical emollients are often used to alleviate the main symptoms.
Orally administered retinoids and keratolytics are also used. The former include, for example, the active ingredients acitretin and isotretinoin. The periodontitis associated with Haim-Munk syndrome is often difficult to alleviate with conventional treatment methods.
It may help to remove the milk teeth and have the teeth cleaned professionally. In addition, the patients receive orally administered antibiotics. A so-called synovectomy usually reduces the inflammatory processes of arthritis. However, this may affect the flexibility of the associated joints.
Outlook & Forecast
Haim-Munk syndrome is genetic and therefore not curable. Only symptomatic treatment is possible. Due to the extreme rarity of the disease, however, there is still little experience of possible treatment successes.
Typical are the severe keratinization of the skin and the extensive skin symptoms, which respond only to a limited extent to treatment with corneal softening agents such as salicylic acid or urea. Keratoderma is also treated with oral retinoids such as etretinate, acitretin, or isotretinoin. However, the skin symptoms can only be alleviated with these remedies, but not eliminated or prevented.
Deformed nails, spider fingers, bone dissolution in fingers and toes and flat feet are also noticeable. These characteristics are difficult to correct. In addition to the skin symptoms, the most important symptom is progressive periodontitis, which if left untreated can lead to complete destruction of the teeth. However, conventional therapies cannot successfully treat this form of periodontitis.
The complete removal of the milk teeth combined with the administration of oral antibiotics and professional tooth cleaning promises a certain degree of success. There are also isolated patients who develop destructive arthritis of the shoulder and wrist joints. Without treatment, there is a risk of complete destruction of the affected joints. One treatment option is to remove the diseased joints. This reduces the inflammation. At the same time, however, there is limited mobility of the joints.
The Haim-Munk syndrome is a hereditary disease, so there are no preventive measures.
In the case of Haim-Munk syndrome, in most cases the options for aftercare are severely limited or are not available to the person affected. Since this is also a genetic disease, full treatment cannot be carried out, so that the patient usually has to rely on lifelong treatment.
Even self-healing cannot occur in Haim-Munk syndrome. However, the earlier the disease is detected, the better the further course is, as a rule. In most cases, the affected person is dependent on taking medication. It is important to ensure that the dosage is correct and that it is taken regularly in order to properly alleviate the symptoms.
In many cases, those affected are also dependent on taking antibiotics, although these should not be taken together with alcohol, otherwise their effect will be significantly reduced. In many cases, the support and care of one’s own family is also very helpful and can prevent depression or other mental upsets. Contact with other people affected by Haim-Munk syndrome can also be very useful.
You can do that yourself
Haim-Munk syndrome is usually treated with antibiotics and keratolytics. A light sedative or painkiller helps against the typical symptoms. The most important measure is to clarify the illness immediately. As soon as the first signs of a skin disease appear, this must be reported to the pediatrician.
The success of the treatment depends very much on whether the condition is treated before or after the development of the first milk teeth. If the therapy is carried out too late, permanent damage to the teeth and the oral cavity can occur. Regardless of the time of treatment, regular examinations and drug treatment by a specialist are indicated. Parents should pay attention to whether side effects occur and discuss any abnormalities with the doctor.
The therapy itself can be supported by cleaning the affected skin areas with a suitable care product. Dandruff should be removed regularly, preferably with a sponge and a natural agent. Since small children are mostly affected, it is up to the parents to monitor the course of the disease and to take the hygiene measures mentioned. If the child feels severe pain or itching, it is best to consult a doctor.