Abstract
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is a rare autosomal dominant autoinflammatory disorder, caused by a missense mutation in the PSTPIP1 gene. Cutaneous and articular manifestations are characteristic but little is known about organ involvement of this disorder. Here, we describe the case of a patient with PAPA syndrome who was admitted to our hospital for evaluation of proteinuria. He had a history of recurrent abdominal attacks with lesions resembling Crohn’s disease. A renal biopsy revealed nephrosclerosis, which was presumed to be due to a long history of systemic inflammation. He also showed marked splenomegaly with pancytopenia. These manifestations should be kept in mind during the follow up of this syndrome.
Highlights
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is a rare autosomal dominantly inherited autoinflammatory disorder (OMIM ID #604410) caused by a missense mutation in PSTPIP1, the gene for proline/serine/threonine phosphatase-interacting protein 1 (PSTPIP-1) [1,2]
PSTPIP-1 is shown to interact with pyrin, of which mutations are known to associate with familial Mediterranean fever
Occurrence of proteinuria is occasionally noted [1,3], but details remain unknown because of lack of histological data. Renal biopsy of this patient revealed nephrosclerosis, resembling hypertensive ephrosclerosis usually observed in senior patients
Summary
Pyoderma gangrenosum, and acne (PAPA) syndrome is a rare autosomal dominantly inherited autoinflammatory disorder (OMIM ID #604410) caused by a missense mutation in PSTPIP1, the gene for proline/serine/threonine phosphatase-interacting protein 1 (PSTPIP-1) [1,2]. He had been diagnosed with juvenile idiopathic arthritis (JIA) and Crohn’s disease for a long time, but his arthritis was not typical of JIA, or Crohn’s disease was not histologically proven During careful reconsideration, his pathognomonic clinical course reminded us of PAPA syndrome, which was genetically proven by a finding of a mutation in PSTPIP1 Cultures of the synovial fluid had been negative and prednisolone (PSL) 5-30 mg daily was given, which was effective but unable to bring about sustained remission His arthritis gradually ameliorated with age, while he developed painful cystic acne on the face which often required incision and drainage of the abscess (Figure 1), and occasionally developed pyoderma gangrenosum around the neck and the lower extremities since the age of 15 years. J Genet Syndr Gene Ther 4: 183. doi:10.4172/2157-7412.1000183
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