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PAPA syndrome; pyogenic sterile arthritis, pyoderma gangrenosum, & acne; familial recurrent arthritis
Epidemiology: rare
Genetics:
1) autosomal dominant
2) caused by mutations in the PSTPIP1 gene
Clinical manifestations:
1) onset in childhood
2) corticosteroid-responsive pyogenic arthritis
3) episodic inflammation leading to eventual destruction of joints, muscle, & skin
4) pyoderma gangrenosum, abscesses at injection sites
5) severe cystic acne
6) insulin-dependent diabetes mellitus common in adulthood
Laboratory:
- proteinuria is common
Management:
- see pyoderma gangrenosum
Specific
pyoderma gangrenosum
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 604416
References
OMIM :accession 604416