PAPA syndrome

Autosomal dominant - en

PAPA syndrome (Pyogenic Arthritis, Pyoderma gangrenosum, and Acne) is a rare autoinflammatory disease characterized by a combination of pyogenic arthritis, pyoderma gangrenosum, and severe acne. It is a genetic disorder that typically presents in childhood or early adolescence.

Clinical Features

PAPA syndrome manifests with three primary symptoms:

• Pyogenic arthritis: This is a type of arthritis characterized by recurrent episodes of joint inflammation and pus formation. It often affects the large joints such as the knees and elbows.
• Pyoderma gangrenosum: This is a rare, inflammatory skin condition that causes painful ulcers, usually on the legs.
• Acne: Severe, often cystic acne that can lead to scarring.

Genetics

PAPA syndrome is caused by mutations in the PSTPIP1 gene, which encodes a protein involved in the regulation of the immune system. The condition is inherited in an autosomal dominant manner, meaning that only one copy of the mutated gene is necessary for the disease to occur.

Diagnosis

The diagnosis of PAPA syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the PSTPIP1 gene. Differential diagnosis includes other autoinflammatory syndromes such as Familial Mediterranean fever and Hyperimmunoglobulin D syndrome.

Treatment

There is no cure for PAPA syndrome, but treatment focuses on managing symptoms and preventing complications. This may include:

• Nonsteroidal anti-inflammatory drugs (NSAIDs) for pain and inflammation
• Corticosteroids to reduce inflammation
• Immunosuppressive drugs to control the immune response
• Biologic agents such as TNF inhibitors for severe cases

Prognosis

The prognosis for individuals with PAPA syndrome varies. With appropriate management, many patients can lead relatively normal lives, although they may experience recurrent episodes of arthritis and skin lesions.

Related Pages

• Autoinflammatory disease
• Pyogenic arthritis
• Pyoderma gangrenosum
• Acne
• PSTPIP1
• Familial Mediterranean fever
• Hyperimmunoglobulin D syndrome