Omelchenko Vitaly, Letyagina Elena, Korolev Maxim
Rheumatology Department, Research Institute of Clinical and Experimental Lymрhology - Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia.
J Rheum Dis. 2024 Oct 1;31(4):253-256. doi: 10.4078/jrd.2024.0040. Epub 2024 Aug 27.
Osteopoikilosis (OPK) is a rare benign congenital genetic-mediated sclerosing skeletal disease, characterized by the formation of osteosclerosis foci. OPK is usually clinically asymptomatic, but some patients (15%~20%) may have arthralgia and synovitis. OPK may be associated with rheumatic diseases and might lead to unreasonable over-examination in real clinical practice. Single cases of the OPK together with ankylosing spondylitis (AS) have been described. Here we present a 33-year-old patient diagnosed with AS coexisting with OPK. In the case considered, the combination of AS and OPK accompanied with a high activity of inflammation, peripheral arthritis, a rapid rate of structural progression in axial skeleton, inefficiency of disease-modifying antirheumatic drugs and nonsteroidal anti-inflammatory drugs, a lack of response to anti interleukin-17 and a good response to a tumor necrosis factor inhibitor golimumab. We describe the important points of differential diagnosis associated with the identification of focal changes in bone tissue, especially neoplastic lesion. Foci revealed had typical localization, so, acquaintance of practicing doctors with such rare cases would minimize unnecessary examinations.
骨斑点症(OPK)是一种罕见的良性先天性基因介导的硬化性骨骼疾病,其特征是形成骨硬化病灶。OPK通常在临床上无症状,但一些患者(15%~20%)可能有关节痛和滑膜炎。OPK可能与风湿性疾病相关,在实际临床实践中可能导致不合理的过度检查。已有OPK与强直性脊柱炎(AS)并存的单例报道。在此,我们报告一名33岁被诊断为AS合并OPK的患者。在该病例中,AS与OPK合并存在炎症活动度高、外周关节炎、中轴骨骼结构进展迅速、改善病情抗风湿药物和非甾体抗炎药治疗无效、抗白细胞介素-17治疗无反应以及对肿瘤坏死因子抑制剂戈利木单抗反应良好等情况。我们描述了与骨组织局灶性改变(尤其是肿瘤性病变)鉴别诊断相关的要点。所发现的病灶具有典型的定位,因此,临床医生了解此类罕见病例将使不必要的检查减至最少。