Lindor NM, Arsenault TM, Solomon H, Seidman CE, McEvoy MT, et al.
Mayo Clinic proceedings. Date of publication 1997 Jul 1;volume 72(7):611-5.
1. Mayo Clin Proc. 1997 Jul;72(7):611-5.
A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma
gangrenosum, and acne: PAPA syndrome.
Lindor NM(1), Arsenault TM, Solomon H, Seidman CE, McEvoy MT.
Author information:
(1)Department of Medical Genetics, Mayo Clinic Rochester, MN 55905, USA.
OBJECTIVE: To describe a multigenerational family with transmission of an
autosomal dominant disorder characterized by pyogenic arthritis, pyoderma
gangrenosum, and severe cystic acne.
MATERIAL AND METHODS: We present a detailed case report of a 39-year-old man with
arthritic changes in several joints, pyoderma gangrenosum, and cystic acne.
Several relatives from three generations of his family underwent clinical and
genetic investigations. The findings in this kindred are reported.
RESULTS: Ten affected family members in three generations manifested variable
expression of a pauciarticular, nonaxial, destructive, corticosteroid-responsive
arthritis that began in childhood; pyoderma gangrenosum; and severe cystic acne
in adolescence and beyond. Other less commonly associated features included
adult-onset insulin-dependent diabetes mellitus, proteinuria, abscess formation
at the site of parenteral injections, and cytopenias attributable to sulfonamide
medications. Laboratory evaluation was nondiagnostic. Genetic studies excluded
linkage to the major histocompatibility locus.
CONCLUSION: The acronym of PAPA syndrome (pyogenic sterile arthritis, pyoderma
gangrenosum, and acne) is suggested for this newly recognized pleiotropic
autosomal dominant disorder. The nature of the genetic alteration in PAPA
syndrome is unknown.
DOI: 10.1016/S0025-6196(11)63565-9
PMID: 9212761 [Indexed for MEDLINE]
