Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne Syndrome

Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome: PAPA syndrome is an autosomal dominant autoinflammatory disorder caused by mutations in the PSTPIP1 gene. It results in recurrent, destructive, early-onset inflammation of the joints, skin and muscle that occurs without discernible infection. Biopsies of synovial tissue show massive polymorphonuclear, neutrophil-rich infiltrates without immunoglobulin or complement deposits. The episodic inflammatory arthritis typically does not resolve spontaneously and must be treated with intraarticular steroids or surgical drainage of the infiltrate. Some affected individuals have expanding inflammatory, ulcerative skin lesions (pyoderma gangrenosum) and/or severe acne conglobata consisting of many painful abscesses and draining sinuses that heal with scarring. Pathergy (injection site abscess) is also common.

Tests Available

Forms and Documents

Test Details

ELANE (ELA2), LPIN2, MEFV, MVK, NLRP3 (CIAS1), PSTPIP1, TNFRSF1A
  • Confirmation of a clinical diagnosis
  • To assist in determining the most appropriate therapy, as the response to specific therapeutic modalities depends on the diagnosis
  • Recurrence risk
  • Carrier testing in at-risk family members
  • Prenatal diagnosis
  • Next-Gen Sequencing

Ordering

367
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x1, 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

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