PAPA

PAPA Syndrome is a rare autoinflammatory syndrome characterized by Pyogenic Arthritis, Pyoderma gangrenosum, and Acne. It was first described in 1997 and is caused by mutations in the PSTPIP1 gene. The syndrome is inherited in an autosomal dominant manner.

Symptoms and Signs[edit | edit source]

PAPA Syndrome is characterized by the onset of arthritis in childhood, which can lead to joint destruction. Other symptoms include skin abscesses and ulcers, severe acne, and inflammation of various parts of the body.

Genetics[edit | edit source]

PAPA Syndrome is caused by mutations in the PSTPIP1 gene, which is located on chromosome 15. The PSTPIP1 gene provides instructions for making a protein that is involved in the immune system. Mutations in this gene lead to an overactive immune response, resulting in inflammation and the symptoms of PAPA Syndrome.

Diagnosis[edit | edit source]

The diagnosis of PAPA Syndrome is based on the presence of characteristic clinical features and confirmed by genetic testing. The genetic test involves sequencing of the PSTPIP1 gene to identify mutations.

Treatment[edit | edit source]

There is currently no cure for PAPA Syndrome. Treatment is aimed at managing the symptoms and includes the use of nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids, and immunomodulators. In severe cases, surgery may be required to manage joint destruction.

Prognosis[edit | edit source]

The prognosis for individuals with PAPA Syndrome varies. Some individuals have mild symptoms and a normal life expectancy, while others may experience severe symptoms and complications that can affect quality of life and lifespan.

References[edit | edit source]

PAPA Resources
Need Help Finding a Doctor? Need help finding a doctor or specialist anywhere in the world? Explore our world directory. WikiMD's DocFinder can assist you in locating millions of physicians.	Medical Knowledge Access the latest research - Most recent articles Ongoing trials.