Journal of Genetic Syndromes & Gene Therapy
Open Access

Yamazaki H

Publications

• Case Report
  A Case of Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne(PAPA) Syndrome Accompanied by Nephrosclerosis, Splenomegaly and Intestinal Lesions
  Author(s): Yamamoto A, Morio T, Kumaki E, Yamazaki H, Iwai H, Kubota T, Miyasaka N and Kohsaka H Yamamoto A, Morio T, Kumaki E, Yamazaki H, Iwai H, Kubota T, Miyasaka N and Kohsaka H
  
  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. .. View More»
  DOI: 10.4172/2157-7412.1000183

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