A Case of Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne(PAPA) Syndrome Accompanied by Nephrosclerosis, Splenomegaly and Intestinal Lesions*Corresponding Author: Kubota T, Department of Medicine and Rheumatology, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8519, Japan, Tel: +81-3-5803-5369, Fax: +81-3-5803-5369, Email: [email protected]
Received Date: Aug 24, 2013 / Accepted Date: Sep 20, 2013 / Published Date: Sep 29, 2013
Citation: Yamamoto A, Morio T, Kumaki E, Yamazaki H, Iwai H, et al. (2013) A Case of Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne (PAPA) Syndrome Accompanied by Nephrosclerosis, Splenomegaly and Intestinal Lesions. J Genet Syndr Gene Ther 4:183.DOI: 10.4172/2157-7412.1000183
Copyright: © 2013 Yamamoto A, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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.