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A Case of Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne(PAPA) Syndrome Accompanied by Nephrosclerosis, Splenomegaly and Intestinal Lesions | Abstract
ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
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Case Report

A Case of Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne(PAPA) Syndrome Accompanied by Nephrosclerosis, Splenomegaly and Intestinal Lesions

Yamamoto A1, Morio T2, Kumaki E2, Yamazaki H1, Iwai H1, Kubota T1*, Miyasaka N1 and Kohsaka H1
1Department of Medicine and Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, , Japan
2Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, , Japan
*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  . 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.

 

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.

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