Camisa disease

Camisa disease, also known as Papillon-Lefevre syndrome, is a rare genetic disorder characterized by severe periodontitis and palmoplantar keratoderma. The disease is named after Dr. Vincent Camisa, who first described the condition in 1984.

Etiology

Camisa disease is caused by mutations in the cathepsin C gene, which is located on chromosome 11. This gene is responsible for the production of a protein that plays a crucial role in the function of immune cells such as neutrophils and macrophages. Mutations in this gene lead to a decrease in the activity of these immune cells, resulting in an increased susceptibility to infections.

Clinical Features

The primary symptoms of Camisa disease include severe periodontitis and palmoplantar keratoderma. Periodontitis typically begins in early childhood and can lead to the premature loss of both primary and permanent teeth. Palmoplantar keratoderma, on the other hand, is characterized by thickening of the skin on the palms of the hands and the soles of the feet.

Other symptoms may include hyperhidrosis (excessive sweating), malodour due to bacterial overgrowth, and recurrent skin infections.

Diagnosis

The diagnosis of Camisa disease is typically based on the clinical features, particularly the presence of severe periodontitis and palmoplantar keratoderma. Genetic testing can confirm the diagnosis by identifying mutations in the cathepsin C gene.

Treatment

There is currently no cure for Camisa disease. Treatment is primarily symptomatic and may include antibiotics to manage infections, oral hygiene measures to manage periodontitis, and keratolytic agents to manage palmoplantar keratoderma.

Prognosis

The prognosis for individuals with Camisa disease varies. While the disease itself is not life-threatening, the associated complications, particularly recurrent infections, can significantly impact quality of life.

File:Papillon-Lefevre syndrome.jpg

A patient with Papillon-Lefevre syndrome, also known as Camisa disease.

See Also

• List of genetic disorders
• Periodontitis
• Palmoplantar keratoderma

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