piperidines and Acquired-Hyperostosis-Syndrome

Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome, a type of chronic inflammatory disease, is rare and difficult to treat. Osteoarthropathy with skin involvement is the primary clinical manifestation of SAPHO syndrome. The unknown pathogenesis of SAPHO syndrome is speculated to be related to individual genetic differences, immune levels, microorganisms, and environmental factors. Tofacitinib, a novel small-molecule Janus kinase (JAK) inhibitor, has been used to treat rheumatoid arthritis. However, it also has great potential for the treatment of other immune diseases, including SAPHO syndrome. A 36-year-old man with chest and back pain for more than two months was admitted to our hospital. After admission, the patient developed a pustular rash and enteritis. SAPHO syndrome was diagnosed based on the above clinical manifestations, computed tomography (CT), and bone scintigraphy findings. Notably, the patient also had ankylosing spondylitis. Tofacitinib significantly improved the patient's skin symptoms while preventing worsening of chest and back pain when adalimumab was discontinued. We report the first case of ankylosing spondylitis with SAPHO syndrome. In addition, it is also the first successful treatment thereof with tofacitinib. We hope to provide valuable information regarding the pathogenesis and treatment of SAPHO syndrome in this case.

Topics: Acquired Hyperostosis Syndrome; Adult; Humans; Janus Kinase Inhibitors; Male; Piperidines; Pyrimidines; Spondylitis, Ankylosing

Topics: Acquired Hyperostosis Syndrome; Humans; Off-Label Use; Piperidines; Pyrimidines

Topics: Acquired Hyperostosis Syndrome; Humans; Off-Label Use; Piperidines; Pyrimidines

Nail involvement is common in synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome, which has a strong association with quality of life in patients with SAPHO. Tofacitinib is an oral Janus kinase inhibitor that has been previously shown to be effective for nail psoriasis.. To assess the efficacy and safety of tofacitinib for the treatment of nail involvement in SAPHO syndrome.. Participants received tofacitinib, 5 mg, twice daily, for 12 weeks.. This open-label, single-arm, prospective pilot study included 13 patients with SAPHO syndrome accompanied by nail lesions and active palmoplantar pustulosis who were recruited from Peking Union Medical College Hospital from September 2019 to December 2019. Follow-up was completed in March 2020. Analysis began March 2020.. The primary end point was the percentage of the change from baseline in Nail Psoriasis Severity Index scores at week 12. Secondary end points included the percentage of the change from baseline in Palmoplantar Psoriasis Area and Severity Index scores, change from baseline in Visual Analogue Scale scores in global osteoarticular pain, Dermatology Life Quality Index scores, and inflammatory markers. Adverse events were recorded throughout the study.. Thirteen female Asian patients (means [SD] age, 39.7 [12.3] years) were included, all of whom completed the study. At week 12, significant improvements were observed in Nail Psoriasis Severity Index scores (median, -67% [interquartile range (IQR), -56% to -77%]; P < .001) and Palmoplantar Psoriasis Area and Severity Index scores (median, -71% [IQR, -58% to -78%]; P < .001). Significant improvement was also noted in Dermatology Life Quality Index scores (median, -12 [IQR, -8.5 to -15]; P < .001) at week 12. A significant decrease in Visual Analogue Scale scores in global osteoarticular pain was observed at week 8 (median, -4 [IQR, 0 to -5]; P = .02) but was not significant at week 12. Inflammatory marker levels were decreased, as indicated by erythrocyte sedimentation rate (median, -8 mm/h [IQR, -4 mm/h to -11 mm/h]; P < .001) and high-sensitivity C-reactive protein levels (median, -1.6 [IQR, -0.3 to -4.1]; P = .01). No severe adverse events were observed.. In this pilot study, tofacitinib yielded significant remission of nail lesions and palmoplantar psoriasis accompanied by an improvement in quality of life in patients with SAPHO syndrome. Additional follow-up studies to evaluate the long-term efficacy and safety of tofacitinib for nail involvement in SAPHO syndrome are warranted.. Chinese Clinical Trial Registry number: ChiCTR1900025941.

Topics: Acquired Hyperostosis Syndrome; Adult; Arthralgia; Child; Female; Humans; Middle Aged; Nail Diseases; Pain Measurement; Pilot Projects; Piperidines; Prospective Studies; Psoriasis; Pyrimidines; Quality of Life; Severity of Illness Index; Treatment Outcome; Young Adult

Topics: Acquired Hyperostosis Syndrome; Adult; Female; Humans; Pilot Projects; Piperidines; Protein Kinase Inhibitors; Pyrimidines; Pyrroles; Treatment Outcome

Topics: Acquired Hyperostosis Syndrome; Adult; Female; Humans; Janus Kinase 3; Lymphangioleiomyomatosis; Piperidines; Protein Kinase Inhibitors; Pyrimidines; Pyrroles

Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is an autoinflammatory disorder without standardized treatment. Janus kinase (JAK) inhibitors can block a range of cytokines and might possess significant anti-inflammatory activity. Here, we report the first case of efficacious treatment of refractory SAPHO syndrome with the JAK inhibitor tofacitinib.. A 44-year-old woman presented with arthralgia in the right wrist and complained of having difficulty in doing housework. Symptoms were unresponsiveness to nonsteroidal anti-inflammatory drugs, disease-modifying antirheumatic drugs, and tumor necrosis factor inhibitors. A diagnosis of SAPHO syndrome was made based on previous dermatological and osteoarticular manifestations and bone scintigraphy findings. Oral treatment with tofacitinib at 5 mg twice daily in combination with the basic methotrexate treatment was initiated. After 4 weeks of using tofacitinib, the patient reported marked improvement of symptoms and also reported being competent in completing housework.. The efficacy of JAK inhibitors in treating refractory SAPHO syndrome should be noted.

Topics: Acquired Hyperostosis Syndrome; Adult; Antirheumatic Agents; Autoimmunity; Bone and Bones; Drug Resistance, Multiple; Drug Therapy, Combination; Female; Humans; Immunologic Tests; Janus Kinase Inhibitors; Methotrexate; Piperidines; Pyrimidines; Pyrroles; Tomography, Emission-Computed; Treatment Outcome