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:

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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