- The Syndrome of Pyogenic Arthritis with Pyoderma Gangrenosum and Acne.

The Syndrome of Pyogenic Arthritis with Pyoderma Gangrenosum and Acne

PAPA syndrome is a rare autosomal dominant disorder caused by mutations in PSTPIP1, a gene located on chromosome 15 that encodes the cytoskeletal proline serine threonine phosphatase-interacting (PSTPIP) protein. 

Clinical manifestations:

• Recurrent episodes of sterile, pyogenic arthritis that leads to erosions and joint destruction, and appears to develop spontaneously or after minor trauma. The onset of arthritis is often in early childhood.
• Cutaneous manifestations tend to develop in adolescence, at which time patients are prone to developing severe cystic acne.
• PAPA patients commonly develop ulcerating pyoderma gangrenosum lesions  and some develop pathergy reactions

Treatment:

• Corticosteroids,
•  IL-1 antagonists, and TNF inhibitors, sometimes in combination.
• The joint manifestations of PAPA appear to respond to IL-1 blockade.
• Cutaneous manifestations seem to respond more favorably to TNF blockade.
•  Local measures, such as joint aspiration and drainage and intensive wound care, are also important in the care of PAPA patients, as is pain management for cutaneous disease.
• Caution should be taken when prescribing sulfonamides because some PAPA patients develop pancytopenia.
• Antibiotics are not indicated unless there is a documented superinfection.

 Ibrahim samaha

References:-

• Amanda K. Ombrello and Daniel L. Kastner , Hereditary Periodic Fever Syndromes and Other Systemic Autoinflammatory Diseases,Chapter 163,NELSON TEXTBOOK OF PEDIATRICS, TWENTIETH EDITION 2016
• Clarissa Pilkington, Kiran Nistala, Helen Lachman and Paul Brogan, Rheumatology , GREAT ORMOND STREET HANDBOOK OF PAEDIATRICS, 2nd  ed
• Osama Naga,Rheumatologic Disorders, Periodic Fever ,190-192 Pediatric Board Study Guide, A Last Minute Review
• Sujata Sawhney and Amita Aggarwal, Autoinflammatory Syndromes in Children, Pediatric Rheumatology,546-554 A Clinical Viewpoint,2017
• Ronald M. Laxer ,David D. Sherry  and Philip J. Hashkes,CH10 Autoinflammatory Syndromes,189-208 Pediatric Rheumatology in Clinical Practice,2nd ed 2016