Baisya Ritasman, Gavali Meghna, Tyagi Mudit, Devarasetti Phani Kumar
Department of Clinical Immunology and Rheumatology, Nizam's Institute of Medical Sciences (NIMS), Hyderabad, India.
Vitreoretinal Diseases, LV Prasad Eye Institute, MS Ophthalmology, Hyderabad, India.
Case Rep Rheumatol. 2023 Jan 18;2023:6201887. doi: 10.1155/2023/6201887. eCollection 2023.
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.
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.
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.
SAPHO（滑膜炎、痤疮、脓疱病、骨质增生和骨炎）综合征是一种罕见的自身炎症性疾病，其特征为炎症性皮肤、骨骼和关节表现，这给诊断带来困难，治疗也颇具挑战。
在此，我们报告一例自幼即诊断为伴有骨关节和皮肤受累的SAPHO综合征的年轻男性病例。他长期面临诊断难题，因此治疗不充分。他对传统改善病情抗风湿药反应甚微，但对肿瘤坏死因子抑制剂（阿达木单抗）反应良好。后来，他中断治疗，出现急性前葡萄膜炎，使用阿达木单抗和托法替布治疗后病情也显著改善，不过经济困难一直是该患者面临的问题。
该病例的独特之处在于患者有多器官受累，包括骨关节系统、皮肤和眼睛。肿瘤坏死因子抑制剂（阿达木单抗）和JAK抑制剂（托法替布）对所有器官均有良好反应，使该患者的生活质量得到了显著改善。
