Papillon–Lefèvre syndrome is a rare, genetic disorder that affects the teeth and bone structure of the hands and feet. This disease is characterized by premature loss of permanent teeth, bony loss of the phalanges and tooth mucosa, and thick and deformed nails.
The exact cause of Papillon–Lefèvre syndrome is not known, but it is thought to be related to mutations in the cathepsin C gene. This disease can be inherited through autosomal-recessive transmission, which means it can be inherited from both parents.
Symptoms of Papillon–Lefèvre syndrome may include premature loss of permanent teeth, gingivitis, periodontitis (inflammation of the tissues that surround and support the teeth), deformed finger bones, thick and deformed nails. It can also be associated with skin problems such as acne and folliculitis.
Treatment of Papillon–Lefèvre syndrome may include tooth extractions, dentures, dental implants and surgical treatment to correct bone deformities. It is also important to monitor and treat periodontal and skin conditions.
However, Papillon–Lefèvre syndrome can have a major impact on patients’ quality of life through tooth loss and impaired appearance. It is therefore important to carry out careful monitoring and appropriate treatment to improve symptoms and prevent complications of the condition.
Diagnosis of Papillon–Lefèvre syndrome can be made by clinical evaluation, dental radiographs and genetic analysis. It is important to make a diagnosis as early as possible, as this can help prevent tooth loss and other complications.
Preventive treatment can include rigorous oral hygiene, which can help prevent gum infections and prolong the durability of teeth. Early treatment can also help prevent bone loss and prevent bone deformities.
Surgical treatment may be necessary to correct bone deformities and prevent further loss of teeth and gum tissue. This treatment may include bone grafting, the use of dentures or even dental implants.
The dentist’s role in detection
The human body is characterized by the complex activity of systems designed to maintain functional balance and ensure what we call health.
From the embryonic stage, the body is susceptible to developing diseases that will manifest themselves after birth. The sequences of genes and their interaction are decisive in defining the traits that the child will have.
When the balance is disturbed and the body is unable to remedy the defect, pathologies appear.
Papillon–Lefèvre syndrome, named after its discoverers, is an autosomal recessive disorder.
This means that from healthy parents we can have sick children and from parents already suffering from this syndrome, affected children as well. A dysfunction in one gene causes the condition.
General manifestations of Papillon–Lefèvre syndrome
Hyperkeratosis: thickening of the skin on the palms and feet. The superficial layers of the epidermis multiply at a rapid rate. The elbows, knees and malleolus may also be severely affected.
The trunk is less affected, only in severe cases. Lesions vary in color and texture. They may be white, brown, red, scaly, cracked or crusted. In winter, as temperatures drop, the cracks deepen and the lesions become painful. They are also susceptible to developing infections.
Delayed somatic development: there is a general retardation in the growth and development of the organism.
Oral manifestations in Papillon-Lefèvre syndrome
Disorders of tooth structure: Although the eruption of the temporary teeth is consistent with age, respecting the order of the teeth, they will be reduced in size, a phenomenon called microdontia. Also, the root will not be fully and correctly formed, leading to poor quality anchorage of the teeth in the alveolar bone.
Gingivitis: In the first year after the eruption of temporary teeth, the gums become, without reason, particularly inflamed and painful. Due to the increased inflammation, periodontal resistance decreases and the pathology will progress.
Periodontitis: Weakening of periodontal resistance leads to bone resorption, thus periodontitis sets in from an early age. The supporting tissues migrate towards the root of the tooth and their tight seal will be replaced by the presence of deep periodontal pockets.
Painful chewing: It is due to dental mobility
Tooth migration: Teeth will change their position on the arches, rotate, causing an occlusal imbalance which is transmitted to the temporomandibular joint.
Halitosis: Bad mouth odor experienced by the patient’s entourage due to bacteria growing in the existing periodontal pockets.
Thus, as a result of all the pathological processes taking place in the oral cavity, the young patient will lose his temporary teeth around the age of 4-5 years, before the permanent teeth appear. It is worth noting that gingival inflammation returns to normal status, without inflammation, with the loss of teeth.
This process of tooth loss is repeated in the same way in the permanent dentition.
Evolution of the disease
The patient becomes totally edentulous around the age of 10-11 years. The child has an aged appearance, with decreased lower facial floor size and aspirated soft tissues.
From a dental point of view, periodontal prophylaxis with recall of the patient every 3 months is indicated. However, an attempt is made to keep the teeth on the arch as long as possible. The patient will wear dentures from an early age.
Despite the fact that Papillon–Lefèvre syndrome can be a debilitating condition, patients with this condition can have a good quality of life with proper treatment and rigorous care of their oral health.
It is important to consider that Papillon–Lefèvre syndrome can be a chronic condition and may require lifelong treatment. However, with proper treatment and rigorous oral care, patients can have a satisfactory physical appearance and quality of life.