TITLE:
Tofacitinib for Atypical SAPHO Syndrome in an Adolescent: A Case Report
AUTHORS:
Yini Li, Junye Liu, Yan Ma
KEYWORDS:
SAPHO Syndrome, Tofacitinib, Palmoplantar Pustulosis, JAK-STAT Pathway, Adolescenty
JOURNAL NAME:
Case Reports in Clinical Medicine,
Vol.15 No.9,
September
16,
2026
ABSTRACT: Background: SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome is a rare autoinflammatory disorder that most typically involves the anterior chest wall. In adolescents, however, osteoarticular lesions may predominantly affect the long bones, with normal inflammatory markers, constituting an atypical presentation that is easily overlooked. Optimal treatment for such presentations remains to be defined. Case presentation: We report a 14-year-old female adolescent who initially presented with refractory desquamation of both feet, which progressed to miliary sterile pustules consistent with palmoplantar pustulosis (PPP), accompanied by lower-extremity bone pain. Inflammatory markers were within normal limits, whereas magnetic resonance imaging (MRI) demonstrated osteitis of the bilateral femoral metadiaphyses, Computed tomography (CT) demonstrated sparing of the sternoclavicular joints. According to the Kahn (1994) diagnostic criteria, a diagnosis of SAPHO syndrome with an atypical osteoarticular distribution was established. Treatment and outcome: The skin lesions had relapsed upon discontinuation of prior topical agents and traditional Chinese medicine. The patient was therefore treated with oral tofacitinib (5 mg once daily). After five months, the plantar lesions had improved markedly, with reduced scaling, and the lower-extremity bone pain had subsided. No adverse effects were observed during treatment. Conclusion: This case illustrates an atypical adolescent presentation of SAPHO syndrome, characterized by palmoplantar pustulosis with bilateral femoral osteitis but without anterior chest wall involvement or elevated inflammatory markers, and documents a favorable response of both cutaneous and skeletal manifestations to tofacitinib. These findings support the potential of JAK inhibitors as a therapeutic option for SAPHO syndrome, although further studies are warranted.