Haim-Munk syndrome is a genetically caused disease that occurs very rarely. The typical hallmark of the disease is skin rashes in the form of reddish, raised patches on the skin. These also appear on the palms of the hands as well as on the soles of the feet. The skin shows a strong susceptibility to infections. In addition, the finger and toe nails of affected patients grow excessively.
What is Haim-Munk syndrome?
Haim-Munk syndrome is sometimes referred to by the abbreviation HMS. The disease is inherited to children in an autosomal recessive manner. In addition to palmoplantar hyperkeratosis, periodontitis is one of the main symptoms of the disease. Periodontitis starts relatively early and shows a severe course. Other possible complaints in the context of Haim-Munk syndrome are, for example, arachnodactyly, pes planus and so-called acroosteolysis. Basically, Haim-Munk syndrome is a disease that occurs only with very low frequency. The majority of patients listed in the literature are Indian individuals from an isolated community. Severe periodontitis usually leads to premature loss of teeth. In some cases, diseased patients have unusually long and slender fingers and toes.
Causes
Basically, Haim-Munk syndrome has genetic causes. The disease is passed on to future generations in an autosomal recessive manner. In Haim-Munk syndrome, a mutation occurs on a specific gene, which causes the symptoms of the disease. In addition to Haim-Munk syndrome, other diseases are possible that result from mutations on the same gene. These include, for example, prepubertal periodontitis and Papillon-Lefèvre syndrome.
Symptoms, complaints, and signs
Haim-Munk syndrome presents with many different complaints and signs that indicate the condition. One of the main symptoms of Haim-Munk syndrome is keratosis, which is palmoplantar in nature and spreads widely. In this case, the affected individuals suffer from scaly skin areas, for example, on the legs, knees, elbows and backs of the hands. In Haim-Munk syndrome, the keratosis normally develops between the first and fifth year of life. However, in some cases, it is present from birth. In addition, Haim-Munk syndrome is usually accompanied by severe and premature periodontitis. Even the milk teeth are affected by periodontitis. As periodontitis progresses rapidly, it eventually affects the second teeth as well. For this reason, patients suffering from Haim-Munk syndrome often lose their teeth at a young age. Periodontitis is accompanied by gingivitis in Haim-Munk syndrome. In addition, the so-called alveolar bone is degraded. In addition, Haim-Munk syndrome leads to a number of other complaints. Hyperkeratosis, which also affects the inner surfaces of the hands and the soles of the feet, as well as acroosteolysis, onychogryposis and arachnodactyly are typical. The fingers are often malformed and deformed. The fingertips end up pointed, while the curvature resembles claws. In addition, a special form of arthritis occurs in some of the patients, which severely damages the joints of the shoulders and hands. In addition, the diseased individuals are affected by infectious diseases with above-average frequency.
Diagnosis and course
Haim-Munk syndrome is diagnosed primarily on the basis of the typical clinical appearance of the disease. In principle, consultation with a physician is indicated when characteristic symptoms are present. Since the disease often manifests in childhood, the pediatrician is usually the first point of contact for the parents of affected patients. During the anamnesis, the complaints present in the individual case are clarified. In addition, familial dispositions are discussed, since Haim-Munk syndrome is a hereditary disease. Finally, the treating physician examines the symptoms using various examination methods. Signs such as keratosis are usually relatively easy to see and clearly diagnose. Laboratory analyses of the affected skin areas substantiate the suspicion. The diagnosis of Haim-Munk syndrome can be made with relative certainty if a combination of typical symptoms is present.If the keratosis is accompanied by early periodontitis, for example, a diagnosis is possible. The diagnosis based on the clinical examination can be additionally confirmed if a genetic laboratory analysis is performed. The mutation responsible for Haim-Munk syndrome can be detected. As part of the differential diagnosis, prepubertal periodontitis, for example, should be clarified.
Complications
Haim-Munk syndrome primarily causes rashes on the skin and red patches. These complaints limit the patient’s aesthetics and, in the process, not infrequently lead to feelings of shame and inferiority complexes. Likewise, a lowered self-esteem may occur. Not infrequently, the hands and feet are also affected by the complaints, so that pain can also develop in these areas. The patient’s immune system is weakened by Haim-Munk syndrome, so that infections and inflammations occur more frequently. It is not uncommon for the growth of the nails to be increased. Those affected also suffer from problems with their teeth, so that they fall out at a young age. There is discomfort when taking food and liquids. Deformities of the fingers occur, which can also limit the external appearance of the affected person. Intelligence is usually not reduced by Haim-Munk syndrome. A causal treatment of Haim-Munk syndrome is not possible. However, the symptoms can be limited with the help of medication or surgical procedures. Usually, the patient must often take antibiotics to fight inflammation and infection.
When should you see a doctor?
Although Haim-Munk syndrome cannot be treated causally, a doctor should always be consulted anyway. This can prevent further symptoms and complications. As a rule, the doctor should be consulted if the affected person suffers from skin complaints that occur without any particular reason. This may include scaling on the knees and legs. The teeth can also be negatively affected by Haim-Munk syndrome, resulting in caries or periodontitis. If these symptoms also occur at a young age of the patient, a doctor should be consulted. Frequently, those affected also fall ill with infectious diseases and have a weakened immune system. Haim-Munk syndrome can be diagnosed by a pediatrician or a general practitioner. Further treatment is also usually provided by the pediatrician or by a dermatologist. In order to avoid further complications, affected individuals are often dependent on regular examinations. If Haim-Munk syndrome also causes psychological discomfort or depression in parents or family members, a visit to a psychologist is advisable.
Treatment and therapy
Haim-Munk syndrome can be treated with various methods. The physician decides on the choice of the particular treatment method. This is because therapy for Haim-Munk syndrome must always be planned with regard to the individual case. To alleviate the main symptoms, so-called topical emollients are often used. Orally administered retinoids and keratolytics are also used. The former include, for example, the active ingredients acitretin and isotretinoin. Periodontitis in the context of Haim-Munk syndrome is often poorly alleviated by conventional treatment methods. In some circumstances, it helps to remove the deciduous teeth and have them professionally cleaned. Accompanying this, patients receive orally administered antibiotics. A so-called synovectomy usually reduces the inflammatory processes of arthritis. However, it may affect the flexibility of the corresponding joints.
Outlook and prognosis
Haim-Munk syndrome is genetic and therefore cannot be cured. Only symptomatic treatment is possible. However, due to the extreme rarity of the disease, there is still little experience of possible treatment success. Typical are the severe cornifications of the skin and the extensive skin symptoms, which respond only conditionally to therapy 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 agents, but not eliminated or prevented.Also noticeable are deformed nails, spider fineness, bone dissolution in fingers and toes, and flat feet. These features are difficult to correct. The most important symptom, in addition to the skin symptoms, is progressive periodontitis, which, if left untreated, can lead to complete destruction of the dentition. However, this form of periodontitis cannot be successfully treated by conventional therapies. Some success can be achieved by complete removal of the deciduous teeth combined with the administration of oral antibiotics and professional teeth cleaning. There are also isolated patients who develop destructive arthritis of the shoulder and wrist joints. Without treatment, there is also a threat of complete destruction of the affected joints. One treatment option is the removal of the diseased joints. This reduces the inflammation. At the same time, however, there is limited mobility of the joints.
Prevention
Haim-Munk syndrome is a hereditary disease, so no preventive measures exist.
Follow-up care
In most cases of Haim-Munk syndrome, the options for follow-up care are severely limited or not available to the affected person at all. Since it is also a genetic disease, complete treatment is also not possible, so the patient is usually dependent on lifelong treatment in this case. Self-cure is also not possible with Haim-Munk syndrome. However, the earlier the disease is detected, the better the further course of the disease usually is. In most cases, the affected person is dependent on taking medication. Care must be taken to ensure that the correct dosage is taken and that the medication is taken regularly in order to alleviate the symptoms properly. In many cases, the affected person is also dependent on taking antibiotics, although these should not be taken together with alcohol, as their effect is otherwise significantly reduced. In many cases, support and care from one’s own family is also very helpful and can prevent depression or other psychological upsets. Contact with other Haim-Munk syndrome sufferers can also be very useful in this regard.
What you can do yourself
Haim-Munk syndrome is usually treated with antibiotics and keratolytics. A mild sedative or pain reliever will help with the typical discomfort. The most important measure is to clarify the disease immediately. As soon as the first signs of a skin disease appear, this must be reported to the pediatrician. The success of treatment depends very much on whether the condition is treated before or after the formation of the first milk teeth. If the therapy is carried out too late, permanent damage to the teeth and oral cavity may occur. Regardless of the timing 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 remedy. Since mostly small children are affected, it is up to the parents to monitor the course of the disease and to take mentioned hygiene measures. If the child experiences severe pain or itching, it is best to consult a doctor.
