Papillon-Lefèvre syndrome is a particularly rare form of ectodermal dysplasia. As part of the disease, there is severe keratinization on the skin. In addition, affected patients suffer from periodontitis with an unusually early onset. Papillon-Lefèvre syndrome is referred to by the abbreviation PLS in numerous cases.
What is Papillon-Lefèvre syndrome?
Basically, Papillon-Lefèvre syndrome is a rare disorder inherited in an autosomal recessive manner. The disease is characterized by a tendency of the skin to cornify. The medical term for these horny skin areas is hyperkeratosis. In the majority of cases, the typical cornifications appear on the hands and feet or on the palms of the hands and soles of the feet. In addition, patients suffering from Papillon-Lefèvre syndrome are affected by early periodontitis. Bone loss sets in very quickly in these individuals, causing the milk teeth and permanent teeth to fall out prematurely. The gums of affected individuals are severely inflamed and in most cases show a red gingival margin. The disease occurs with a frequency of approximately 1:250,000 to 1:1,000,000. It is true that females and males are affected by the disease in approximately equal proportions.
Causes
Papillon-Lefèvre syndrome has primarily genetic causes. Specific mutations are responsible for the development of the disease. In particular, the so-called CTSC gene plays a central role in the development of Papillon-Lefèvre syndrome. This is because this gene is responsible for the coding of the lysosomal protease. The corresponding substance is important for the differentiation and desquamation of the epidermis. As a result of the mutations, however, there is an almost complete loss of cathepsin C, so that the organism becomes more susceptible to specific pathogens. Basically, the inheritance of Papillon-Lefèvre syndrome is autosomal recessive. The responsible gene is located on the 11th chromosome. In addition, it is discussed to what extent certain immune disorders are involved in the development of Papillon-Lefèvre syndrome.
Symptoms, complaints, and signs
Papillon-Lefèvre syndrome is characterized by numerous complaints and typical symptoms. Usually, palmoplantar keratoses associated with erythematous plaques develop between the ages of 1 and 4. The symptoms are often more intense on the soles of the feet than on the palms of the hands. More rarely, lesions appear on the limbs. In this case, severe gingivitis is the result. Subsequently, a pronounced periodontitis develops combined with the alveolar degradation of the bones. In the course of childhood, periodontal episodes occur again and again, so that the milk teeth and eventually also the permanent teeth are quickly lost. In addition, approximately half of all affected individuals suffer from an increased susceptibility to certain diseases, such as furunculosis or skin abscesses. In some cases, a so-called psoriasiform hyperkeratosis forms on the surface of the hand. This may also spread to the feet. Less frequently, damage to the limbs, for example in the area of the knees or elbows, occurs in the context of Papillon-Lefèvre syndrome. Lesions on the skin are usually made worse by low temperatures and episodes of periodontitis. Some affected individuals also suffer from hyperhidrosis associated with unpleasant odor. Follicular hyperkeratosis and nail dystrophy are also possible. Special calcifications sometimes occur, primarily affecting the dura. Rarely, there are associations between Papillon-Lefèvre syndrome and squamous cell carcinoma and malignant melanoma.
Diagnosis and disease progression
With regard to the diagnosis of Papillon-Lefèvre syndrome, different ways of investigation are available. As a rule, the disease is diagnosed on the basis of the typical clinical symptoms. An important role is played, for example, by performing an X-ray examination. This involves imaging the dentition of the affected person. In this way, possible atrophy in the area of the alveolar bone can be detected. Laboratory tests show reduced CTSC activity in the case of Papillon-Lefèvre syndrome. A genetic test secures the diagnosis of the disease.In the context of the differential diagnosis, the so-called Haim-Munk syndrome and prepubertal periodontitis should be checked. Both diseases are variations of the Papillon-Lefèvre syndrome. In addition, some diseases show similar skin complaints, for example, Greither syndrome, Howel-Evans syndrome, keratosis punctata, and Meleda disease.
Complications
Due to Papillon-Lefèvre syndrome, in most cases, affected individuals suffer from various skin conditions. These thereby have a very negative effect on the aesthetics and thus also on the quality of life of those affected. Often those suffer thereby usually also from a clearly reduced self-esteem and inferiority complexes. Bullying and teasing can also occur in children and have a negative effect on the psyche. The skin of those affected with Papillon-Lefèvre syndrome is highly keratinized and periodontitis occurs. Likewise, the immune system of those affected is also significantly weakened due to the disease, so that patients fall ill more often with infections and inflammations. Boils can form on the skin. Skin cancer can also develop as a result of Papillon-Lefèvre syndrome, so that those affected are dependent on regular check-ups. Possibly, the syndrome also reduces the life expectancy of the patient. The nails can also be damaged by the syndrome. Treatment is only symptomatic and does not lead to complications. The symptoms can be limited with the help of antibiotics and other medications. Treatments in the oral cavity are also usually necessary in this case.
When should you go to the doctor?
If children between the ages of one and four show changes or abnormalities in the appearance of the skin, a doctor should be consulted. In the case of keratinization of the epidermis or very dry and firm skin, it is advisable to consult with a doctor. If the peculiarities appear in regions on the body exposed to UV radiation, there is cause for concern. Since Papillon-Lefèvre syndrome is a precursor of cancer, a visit to the doctor should be made at the first irregularities. An increased susceptibility to infections, the formation of eczema as well as swellings and ulcers are signs of an existing disease. If the skin changes spread over the body or increase in size, a doctor is needed. If abscesses develop, special care is needed. Pus formation can lead to blood poisoning in severe cases and without sterile wound care. This presents a life-threatening condition for the affected person. If the surface of the hand is conspicuously large-pored or thick in spots, this is an indication of a disorder. Irregularities in the perception of touch stimuli, sensory disturbances or numbness should be presented to a physician. Characteristic of Papillon-Lefèvre syndrome is a spread of symptoms under cold environmental conditions. Consequently, if the temperature drops seasonally, the overall skin condition worsens. A physician should be consulted to enable a diagnosis to be made.
Treatment and therapy
Certain measures have proven effective in the therapy of Papillon-Lefèvre syndrome. Thus, treatment of the disease is based primarily on oral administration of retinoids. The aim of this medication is to reduce the keratoderma so as not to accelerate the degeneration of the alveolar bone. In addition, antibiotics are used in some cases. In general, affected patients are encouraged to maintain meticulous oral hygiene, including mouth rinses. In this way, periodontitis should be contained. Nevertheless, it is unavoidable that all affected persons are already toothless at the beginning of adulthood. Dental implants are then placed. Papillon-Lefèvre syndrome does not affect the life expectancy of patients with the disease.
Outlook and prognosis
Papillon-Lefèvre syndrome, which is rare, occurs in infancy or early childhood. Regardless of ethnicity or gender, psoriasis-like skin lesions occur as a result of the inherited syndrome. Periodontitis develops early in life. The development of Papillon-Lefèvre syndrome is mutational. This worsens the prognosis because nothing can be done about the cause of the disease. The lesions on the skin worsen with cold.They also show exacerbations in the course of severe periodontitis episodes. Progressive tooth loss already occurs in late childhood and adolescence. This affects the permanent teeth. The increased susceptibility to infections of various kinds also has a negative effect on the prognosis. Skin abscesses, furunculosis or pyoderma are common. In addition, respiratory infections occur frequently. Sufferers may also be affected by malodorous hyperhidrosis, nail dystrophies or follicular hyperkeratoses. Occasionally, calcifications of the outer meninges, the so-called dura, occur. The prognosis is worsened if – although in rare cases – malignant skin cancers, or recurrent squamous cell carcinomas occur as a result of Papillon-Lefèvre syndrome. The immune disorders accompanying the syndrome are not conducive to recovery. The hereditary nature of Papillon-Lefèvre syndrome is also problematic. The children of affected individuals are also affected by Papillon-Lefèvre syndrome with a 1 in 4 probability.
Prevention
Papillon-Lefèvre syndrome has genetic causes. For this reason, there are no known measures to prevent the disease. Appropriate therapy alleviates the symptoms and partially slows the progression of the disease and the loss of teeth. Regular check-ups with a doctor are essential.
Aftercare
In most cases, no special and direct measures of aftercare are available to the affected person in Papillon-Lefèvre syndrome, so that in this disease an early diagnosis with the subsequent treatment decides whether further complications and complaints can be prevented. It is also not possible for the disease to heal on its own, so that the person affected should always consult a doctor in the case of this disease. An early diagnosis with subsequent treatment usually always has a very positive effect on the further course of the disease. The treatment itself is usually carried out by taking various medications. The patient should always observe the correct dosage and take the medication regularly so that the symptoms can be alleviated properly and, above all, permanently. Likewise, the patient should pay attention to a high standard of hygiene, paying particular attention to good dental hygiene. It is recommended to use mouth rinses and to clean the teeth thoroughly after every meal. Papillon-Lefèvre syndrome is relatively recoverable and usually does not reduce the life expectancy of the affected individual.
Here’s what you can do yourself
The treatments that are scheduled for a patient with Papillon-Lefèvre syndrome have generally been effective. For the patient, this means that consistent adherence to treatment can bring him or her relief, even though this genetic condition is incurable. Since the disease is usually accompanied by a certain susceptibility to infectious diseases, it is worthwhile to pay attention to a healthy lifestyle in order to strengthen the immune system. This includes avoiding stress, getting regular rest and sleep, plus exercise and a good diet with fresh, high-fiber foods, plenty of vitamins, but little sugar and fat. Outdoor sports also activate the immune system and regulate the metabolism. Team sports are recommended, as they also provide a sense of belonging to a group and improve self-esteem. Patients with Papillon-Lefèvre syndrome usually suffer a lot from their skin and gum problems. Children are often exposed to bullying attacks. This is where parents are called upon to sensitively explain the disease to their child and those around him or her and to seek understanding. An accompanying psychotherapeutic treatment against feelings of inferiority is certainly appropriate at any age. Because the disease is so rare, there are unfortunately no regional self-help groups that those affected could join. However, there is a portal for rare diseases on the Internet, Orpha Net. It also provides information on Papillon-Lefèvre syndrome.
