A Case of SAPHO Syndrome Complicated by Uveitis with Good Response to Both TNF Inhibitor and JAKinib

Abstract

Introduction. SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome is a rare autoinflammatory condition describing the constellation of inflammatory skin, bone, and joint manifestations which result in diagnostic difficulty and therapeutic challenge. Case. Here, we present a case of a young male diagnosed with SAPHO syndrome with osteoarticular and cutaneous involvement from an early age in his life. He suffered diagnostic challenges for a long time and was hence inadequately treated. He had minimal response to conventional DMARDs but showed excellent response to TNF inhibitor (adalimumab). Later, he defaulted treatment and presented with acute anterior uveitis which was also dramatically improved with adalimumab and tofacitinib although financial constraint was always an issue for the patient. Conclusion. The uniqueness of this case was that the patient had a multiorgan involvement including osteoarticular system, skin, and eye. Both TNFi (adalimumab) and JAKinib (tofacitinib) had a good response to all organs with a net improvement in the quality of life of this patient.

Tofacitinib: a successful treatment option for SAPHO syndrome

“…We searched PubMed on August 1, 2023, using the terms “SAPHO” and “tofacitinib.” We reviewed 13 reports describing the treatment of SAPHO syndrome with tofacitinib in 36 patients (Table 1). 3–6,10–16 All patients had osteoarticular symptoms, and 26 had PPP. Regarding the response of PPP to tofacitinib, almost all patients (25/26) had marked improvement ( n = 18) or complete remission ( n = 7).…”

“…We reviewed 13 reports describing the treatment of SAPHO syndrome with tofacitinib in 36 patients (Table 1). [3][4][5][6][10][11][12][13][14][15][16] All patients had osteoarticular symptoms, and The literature review indicates that skin and joint manifestations of SAPHO can concurrently be treated with tofacitinib. However, there are some points to be noted.…”

Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases

“…Ocular involvement as retinal vasculitis, optic neuropathy, central retinal artery occlusion and orbital inflammation has been reported in patients with CRMO (139)(140)(141). In patients with SAPHO syndrome, eye inflammatory lesions may occur as anterior scleritis, anterior uveitis, retinal vasculitis and Vogt-Koyanagi-Harada disease (142)(143)(144)(145)(146).…”