Is SAPHO Syndrome Linked to PASH Syndrome and Hidradenitis Suppurativa by Nicastrin Mutation? A Case Report.

Abstract

To the Editor: The SAPHO syndrome is a group of disorders that manifest as synovitis, acne, pustulosis, hyperostosis, and osteitis. Of these, acne damage can present as acne conglobata, acne fulminans, or hidradenitis suppurativa (HS). Studies have shown that some patients with HS or pyoderma gangrenosum, acne, and HS (PASH) syndrome have mutations in gamma-secretase, with alterations in its nicastrin (NCSTN) subunit being especially common1,2. Currently, the pathogenic genes of SAPHO syndrome are not yet known. Here, we describe the detection of a mutation in the NCSTN subunit of gamma-secretase in a sporadic patient with SAPHO syndrome presenting with HS. A 44-year-old Chinese Han male patient with a history of pain in the elbows, knees, sternoclavicular joint, and sacroiliac joint for > 10 years presented with acne and HS in the face and trunk within the last 4 years. Oral isotretinoin treatment was ineffective. The physical examination revealed inflammatory papules and depressed scars on the face. Inflammatory papules, nodules, and cysts accompanied by scarring were found on the back of the neck, back, axilla, and buttocks (Figure 1). Results of the tenderness tests of both sternoclavicular joints, left elbow, and left … Address correspondence to Dr. W. Baoxi, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Road Badachu 33, Shijingshan District, Beijing 100144, China. E-mail: wangbx{at}vip.126.com