PAPA syndrome

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PAPA Syndrome

PAPA Syndrome (Pyogenic sterile Arthritis, Pyoderma gangrenosum, and Acne) is a rare genetic disorder characterized by its three main symptoms: pyogenic sterile arthritis, pyoderma gangrenosum, and acne. The syndrome is caused by mutations in the PSTPIP1 gene and is inherited in an autosomal dominant manner.

Pronunciation

PAPA Syndrome is pronounced as "papa" syndrome.

Etymology

The term "PAPA" is an acronym derived from the initial letters of the three main symptoms of the syndrome: Pyogenic sterile Arthritis, Pyoderma gangrenosum, and Acne.

Symptoms

The primary symptoms of PAPA Syndrome are:

  • Pyogenic sterile arthritis: This is a type of inflammatory arthritis that is typically severe and affects large joints such as the knees, ankles, and elbows. Despite its name, it is not caused by a bacterial infection and is therefore "sterile".
  • Pyoderma gangrenosum: This is a rare skin condition that causes painful, pus-filled sores. It is often associated with other systemic diseases, including PAPA Syndrome.
  • Acne: In the context of PAPA Syndrome, the acne is often severe and can lead to significant scarring.

Diagnosis

Diagnosis of PAPA Syndrome is based on the presence of the characteristic symptoms and confirmed by genetic testing to identify mutations in the PSTPIP1 gene.

Treatment

Treatment for PAPA Syndrome is focused on managing the symptoms and may include anti-inflammatory drugs, immunosuppressants, and biologic therapy.

Related Terms

External links

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