Papillon-Lefèvre syndrome

Papillon-Lefèvre syndrome (PLS) is a rare genetic disorder characterized by periodontitis and palmoplantar keratoderma. It is caused by mutations in the CTSC gene which encodes the lysosomal protease cathepsin C.

Symptoms

The primary symptoms of Papillon-Lefèvre syndrome are severe periodontitis and palmoplantar keratoderma. Periodontitis begins in early childhood and leads to premature loss of both primary and permanent teeth. Palmoplantar keratoderma presents as thickened, scaly skin on the palms of the hands and soles of the feet.

Causes

Papillon-Lefèvre syndrome is caused by mutations in the CTSC gene. This gene provides instructions for making an enzyme called cathepsin C, which plays a role in the immune system. Mutations in the CTSC gene reduce or eliminate the function of cathepsin C, leading to the symptoms of Papillon-Lefèvre syndrome.

Diagnosis

Diagnosis of Papillon-Lefèvre syndrome is based on the clinical presentation of periodontitis and palmoplantar keratoderma. Genetic testing can confirm a diagnosis by identifying mutations in the CTSC gene.

Treatment

Treatment for Papillon-Lefèvre syndrome is focused on managing the symptoms. This may include oral hygiene to manage periodontitis and topical treatments for palmoplantar keratoderma. In some cases, antibiotic therapy may be used to treat infections associated with periodontitis.

Prognosis

The prognosis for individuals with Papillon-Lefèvre syndrome varies. With appropriate management of symptoms, individuals can lead normal lives. However, the loss of teeth and skin symptoms can impact quality of life.

See also

• Periodontitis
• Palmoplantar keratoderma
• CTSC gene
• Genetic disorder

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