PSTPIP1-associated Arthritis, pyoderma gangrenosum and acne (PAPA), aka Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne Syndrome

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Acronym:
PAPA

SAID group:
Pyogenic Diseases

Gene:
PSTPIP1

Inheritance:
Autosomal dominant. Spontaneous mutations, with some familial groups. [29] [30]

Ethnicity:
Currently, the only documented cases are from Europe, New Zealand and the USA. [30]

Frequency:
Unknown, but rare.

Timing of symptoms:
Early-onset, destructive, recurrent inflammation of the joints, skin and muscle. Flares often occur after mild injury, or injections. [29]

Age of onset:
First symptoms of arthritis develop by 1-10 years of age, and skin lesions develop during adolescence. [29] [32]

Skin cutaneous:
Pathergy. Pyoderma gangrenosum ulcerative lesions, and/or severe cystic acne. Affected tissues with high neutrophil infiltration. [29]

Neurologic:
Fevers can accompany flares of joint inflammation and pain. Other neurological symptoms are not noted. [31]

Auditory:
Not noted. [29] [30] [31]

Ophthalamic:
Not noted. [29] [30] [31]

Cardiopulmonary:
Not noted. [29] [30] [31]

Abdominal:
Some patients also have irritable bowel syndrome. [29]

Lymphatic:
Not noted. [29] [30] [31]

Joints bones muscles cartilage:
Episodic inflammatory arthritis, often affecting one joint at a time that doesn’t resolve on it’s own. Intermittent sterile pauciarticular, peripheral erosive arthritis. Joint damage and destruction can often develop from the arthritis. [29] [30] [31] [32] [55]

Vasculitis:
Not noted. [29]

Amyloidosis:
Not noted. [29]

Abnormal labs:
Cultures of the bone and skin are negative. Purulent synovial fluid is full of neutrophils. High with flares: CRP, ESR, WBC. [29] [30] [32]

Search Keywords:
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Photo credit:

Pyoderma Gangrenosum, often seen in PAPA - DermAtlas - Dermatology Image Atlas uploaded 9/18/2002. http://dermatlas.med.jhmi.edu/image/pyodermagangrenosum1_020918

Resources:

  • NIH-WRNMMC 2nd Symposium on Autoinflammatory & Immunedysregulatory Diseases Registration is open for this free symposium August 22-23, 2019!

  • Autoinflammatory Patient & Family Program Join us on August 24th for the patient program, with fun, food and talks by doctors that are experts for autoinflammatory diseases.

  • Genetic Testing Our blog post and downloadable pdf of US genetic testing panels for autoinflammatory diseases.

  • saidsupport.org Our blog with the latest news,& helpful information for thriving with an autoinflammatory diseases.

  • Healthier Ever After Our book/program to help kids with injectable medications.

    Find periodic fever syndrome panels, which test for PAPA and syndromes with similar symptoms at the same time, at the Genetic Testing Registry (GTR).

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