Papillon-Lefevre syndrome

Papillon-Lefèvre Syndrome (PLS) is a rare genetic disorder characterized by the combination of severe periodontitis (gum disease) affecting both primary and permanent teeth and hyperkeratosis (thickening) of the palms of the hands and soles of the feet. First described by physicians Papillon and Lefèvre in 1924, PLS is an autosomal recessive condition, meaning that an individual must inherit one defective gene from each parent to develop the syndrome.

Etiology and Genetics

PLS is caused by mutations in the CTSC gene (cathepsin C gene), which is located on chromosome 11q14.1-11q14.3. The CTSC gene encodes for the enzyme cathepsin C, which plays a crucial role in immune response and inflammation. Mutations in this gene lead to reduced or absent enzyme activity, which is thought to contribute to the severe periodontal disease and skin manifestations seen in individuals with PLS.

Clinical Features

The hallmark features of Papillon-Lefèvre Syndrome include:

• Periodontitis: Rapidly progressive periodontitis leading to early loss of primary and permanent teeth. This typically begins between the ages of 2 and 4 years.
• Palmoplantar Keratoderma: Thickening of the skin on the palms and soles, which can vary in severity and may develop within the first few years of life.

Other features may include increased susceptibility to infections, such as skin infections and abscesses, due to the immune dysfunction associated with the syndrome. Some individuals may also exhibit calcification of the dura mater (the outer membrane of the brain), although its clinical significance is not fully understood.

Diagnosis

Diagnosis of Papillon-Lefèvre Syndrome is based on the clinical presentation and can be confirmed with genetic testing to identify mutations in the CTSC gene. Early diagnosis is crucial for managing the dental and dermatological aspects of the syndrome and improving the quality of life for affected individuals.

Management

Management of PLS is multidisciplinary, involving:

• Dental Care: Aggressive dental hygiene and regular dental visits are essential to manage periodontitis. In severe cases, extraction of severely affected teeth may be necessary.
• Dermatological Care: Treatment of palmoplantar keratoderma may include the use of emollients, keratolytics (agents that soften and break down the skin), and, in some cases, systemic retinoids.
• Antibiotic Therapy: Prophylactic antibiotics may be used to prevent skin and systemic infections.

Prognosis

The prognosis for individuals with Papillon-Lefèvre Syndrome varies. With early and aggressive management of dental and skin manifestations, individuals can lead relatively normal lives. However, the severe periodontal disease can lead to early tooth loss, which can significantly affect nutrition, speech, and quality of life.

Epidemiology

Papillon-Lefèvre Syndrome is extremely rare, with an estimated prevalence of 1 to 4 cases per million individuals worldwide. It affects males and females equally and has been reported in various ethnic groups.

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