PLS stands for Papillon-Lefèvre Syndrome. Papillon -Lefèvre syndrome is a particularly rare form of ectodermal dysplasia. As part of the disease, there is severe keratinization of the skin. In addition, the affected patients suffer from periodontitis, which sets in unusually early. Papillon-Lefèvre syndrome is often referred to by the abbreviation PLS. See AbbreviationFinder for abbreviations related to PLS.
What is Papillon-Lefèvre Syndrome?
Basically, the Papillon-Lefèvre syndrome is a rare disease that is inherited in an autosomal recessive way. The disease is characterized by a tendency of the skin to become horny. The medical term for these calloused areas of skin is hyperkeratosis.
The typical cornifications show up in the majority of cases on the hands and feet or on the palms of the hands and the soles of the feet. In addition, patients suffering from Papillon-Lefèvre syndrome are affected by early periodontitis.
Bone loss sets in very quickly in people, so that the milk teeth and permanent teeth fall out prematurely. The gums of those affected 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. The rule is that females and males are affected in roughly equal proportions by the disease.
Causes
Papillon-Lefèvre syndrome has primarily genetic causes. Special mutations are responsible for the development of the disease. Above all, the so-called CTSC gene plays a central role in the development of Papillon-Lefèvre syndrome. Because this gene is responsible for coding the lysosomal protease.
The appropriate substance is important to differentiate and exfoliate the epidermis. As a result of the mutations, however, there is an almost complete loss of cathepsin C, making the organism more susceptible to specific pathogens. Basically, the inheritance of Papillon-Lefèvre syndrome occurs in an autosomal recessive manner.
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 the Papillon-Lefèvre syndrome.
Symptoms, Ailments & Signs
Papillon-Lefèvre syndrome is characterized by numerous complaints and typical symptoms. As a rule, palmoplantar keratoses in connection with erythematous plaques develop between the ages of 1 and 4 years. The complaints on the soles of the feet are often more pronounced than on the palms of the hands.
Damage to the limbs is less common. The result is severe gingivitis. This is followed by a pronounced periodontitis combined with the alveolar degradation of the bones. In the course of childhood, periodontal thrusts occur again and again, so that the milk teeth and finally the permanent teeth are quickly lost.
In addition, around half of all people with the disease 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 your feet. Damage to the limbs, for example in the area of the knees or elbows, occurs less frequently as part of the Papillon-Lefèvre syndrome. The lesions on the skin are usually made worse by cold temperatures and flare-ups of periodontitis.
Some sick people also suffer from hyperhidrosis, which is associated with an unpleasant smell. Follicular hyperkeratosis and nail dystrophy are also possible. Sometimes there are special calcifications that primarily affect the dura. There are rare associations between Papillon-Lefèvre syndrome and squamous cell carcinoma and malignant melanoma.
Diagnosis & course of disease
With regard to the diagnosis of the Papillon-Lefèvre syndrome, different examination options are available. As a rule, the disease is diagnosed on the basis of the typical clinical symptoms. Carrying out an X-ray examination, for example, plays an important role.
The dentition of the affected person is shown in pictures. In this way, possible atrophy in the area of the alveolar bone can be identified. Laboratory tests show reduced CTSC activity in the case of Papillon-Lefèvre syndrome. A genetic test ensures the diagnosis of the disease.
As part 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 disorders, for example Greither syndrome, Howel-Evans syndrome, punctate keratosis and Meleda disease.
Complications
Due to the Papillon-Lefèvre syndrome, those affected suffer from various skin complaints in most cases. These have a very negative effect on the aesthetics and thus also on the quality of life of those affected. Often, those who do this usually also suffer from significantly reduced self-esteem and inferiority complexes.
Bullying and teasing can also occur in children and have a negative effect on their psyche. The skin of those affected is severely callused in Papillon-Lefèvre syndrome and periodontitis develops. The immune system of those affected is also significantly weakened due to the disease, so that the patients are more likely to contract infections and inflammations. Boils can form on the skin.
Skin cancer can also develop due to the Papillon-Lefèvre syndrome, so that those affected are dependent on regular check-ups. The syndrome may also reduce 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 medicines. Treatments in the oral cavity are usually also necessary.
When should you go to the doctor?
If children show changes or abnormalities in their skin between the ages of one and four, a doctor should be consulted. If the epidermis is horny or the skin is very dry and firm, it is advisable to consult a doctor. If the peculiarities arise in regions of the body that are exposed to UV radiation, there is cause for concern. Since the Papillon-Lefèvre syndrome is a precursor to cancer, a doctor’s visit should be made as soon as the first irregularities appear.
An increased susceptibility to infection, the formation of eczema, swelling 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 required. In severe cases and without sterile wound care, the formation of pus can lead to blood poisoning. This means that the patient is in a life-threatening condition. If the surface of the hand has large pores or is thick in certain areas, this is an indication of a disorder.
Irregularities in the perception of touch stimuli, sensory disturbances or numbness should be presented to a doctor. Characteristic of the Papillon-Lefèvre syndrome is a spread of the symptoms under cold environmental conditions. If the temperature falls due to the season, the overall appearance of the skin deteriorates. In order to make a diagnosis, a doctor should be consulted.
Treatment & Therapy
Certain measures have proven effective in the treatment of Papillon-Lefèvre syndrome. Thus, the treatment of the disease is primarily based on the oral administration of retinoids. The goal of this medication is to reduce the keratoderma so as not to accelerate the degeneration of the alveolar bone.
In some cases, antibiotics are also used. In principle, the affected patients are required to practice meticulous oral hygiene, including mouthwashes. This is to curb periodontitis.
Nevertheless, it is unavoidable that all sick people are already toothless at the beginning of adulthood. Dental implants are then placed. The Papillon-Lefèvre syndrome does not affect the life expectancy of the affected patients.
Outlook & Forecast
The rare Papillon-Lefèvre syndrome 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. Papillon-Lefèvre syndrome is caused by mutations. This worsens the prognosis because nothing can be done about the cause of the disease.
The lesions on the skin worsen when it is 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 often occur . In addition, respiratory infections occur more frequently. Those affected can also be affected by foul-smelling hyperhidrosis, nail dystrophy or follicular hyperkeratoses. Calcifications of the outer meninges, the so-called dura, occasionally occur.
The prognosis is worsened if – albeit in rare cases – as a result of the Papillon-Lefèvre syndrome, malignant forms of skin cancer or recurrent squamous cell carcinomas occur. The emerging immune disorders accompanying the syndrome are not conducive to recovery. The heritability of the Papillon-Lefèvre syndrome is also problematic. The children of those affected are also affected by Papillon-Lefèvre syndrome with a probability of 1 in 4.
Prevention
Papillon-Lefèvre syndrome has genetic causes. For this reason, no measures to prevent the disease are known. Appropriate therapy relieves the symptoms and partially slows the progression of the disease and the loss of the teeth. Regular check-ups with your doctor are essential.
Aftercare
In most cases, those affected with Papillon-Lefèvre syndrome do not have any special and direct aftercare measures available, so that with this disease an early diagnosis and subsequent treatment decide whether further complications and symptoms can be prevented. It can also not come to an independent healing, so that the person affected with this disease should definitely consult a doctor.
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 person concerned should always observe the correct dosage and regular intake of the medication so that the symptoms can be alleviated properly and, above all, permanently.
The patient should also pay attention to a high standard of hygiene, with good dental hygiene being particularly important. It is recommended to use mouthwash and to clean your teeth thoroughly after each meal. Papillon-Lefèvre syndrome can be treated relatively easily and usually does not reduce the life expectancy of the person affected.
You can do that yourself
The treatments that are scheduled for a patient with Papillon-Lefèvre syndrome have generally worked well. For the patient, this means that consistent adherence to therapy can bring relief, even though this genetic disease is incurable.
Since the disease is usually associated with a certain susceptibility to infectious diseases, it is worth maintaining a healthy lifestyle in order to strengthen the immune system. This includes avoiding stress, regular rest and sleeping times, exercise and a good diet with fresh, high-fiber food, lots of vitamins, but little sugar and fat. Outdoor sports also activate the immune system and regulate the metabolism. A team sport is recommended because it also ensures connection to a group and improves self-esteem.
Patients with Papillon-Lefèvre syndrome usually suffer greatly from their skin and gum problems. Children are often exposed to bullying attacks. This is where the parents come into play, who can explain the disease to their child and those around them in a sensitive manner and promote understanding. Psychotherapeutic accompanying 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 can join. However, there is a portal for rare diseases on the Internet, the Orpha Net. It also provides information on Papillon-Lefèvre syndrome.
