Papillon–Lefèvre syndrome

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Papillon–Lefèvre syndrome
Synonyms	Palmoplantar keratoderma with periodontitis
Pronounce	N/A
Specialty	N/A
Symptoms	Palmoplantar keratoderma, periodontitis, hyperkeratosis
Complications	Tooth loss, skin infections
Onset	Early childhood
Duration	Lifelong
Types	N/A
Causes	Mutations in the CTSC gene
Risks	Consanguinity
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	Haim–Munk syndrome, Chediak–Higashi syndrome
Prevention	N/A
Treatment	Retinoids, antibiotics, dental care
Medication	N/A
Prognosis	Variable, depends on management
Frequency	Rare
Deaths	N/A

Papillon–Lefèvre syndrome (PLS) is a rare genetic disorder characterized by severe periodontitis leading to premature loss of both primary and permanent teeth, and hyperkeratosis of the palms and soles. It is caused by mutations in the cathepsin C gene.

Symptoms

The primary symptoms of Papillon–Lefèvre syndrome include:

• Periodontitis: This is often the first sign of PLS, usually appearing between the ages of 1 and 4. It leads to inflammation of the gums and eventual loss of teeth.
• Hyperkeratosis: This involves thickening of the skin on the palms of the hands and soles of the feet. It typically develops during the first few years of life.

Causes

Papillon–Lefèvre syndrome is caused by mutations in the cathepsin C gene. This gene provides instructions for making a protein that is involved in the immune system. Mutations in this gene lead to a reduction in the activity of the cathepsin C protein, which impairs the immune system's ability to fight off bacteria in the mouth, leading to periodontitis.

Diagnosis

Diagnosis of Papillon–Lefèvre syndrome is based on the clinical symptoms, particularly the presence of severe periodontitis and hyperkeratosis. Genetic testing can confirm a diagnosis by identifying mutations in the cathepsin C gene.

Treatment

Treatment for Papillon–Lefèvre syndrome primarily involves managing the symptoms. This may include:

• Regular dental cleanings and use of antibacterial mouth rinses to manage periodontitis.
• Use of emollients and keratolytic agents to manage hyperkeratosis.
• Antibiotic therapy to treat any associated infections.

Prognosis

With appropriate management, individuals with Papillon–Lefèvre syndrome can lead normal lives. However, the loss of teeth can affect nutrition and speech, and the skin symptoms can cause discomfort and social stigma.

See also

• Periodontitis
• Hyperkeratosis
• Genetic disorder
• Cathepsin C

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