Federico G, Rigante D, Pugliese A L, Ranno O, Catania S, Stabile A
Centre of Periodic Fevers, Università Cattolica Sacro Cuore Rome, Rome, Italy.
Scand J Rheumatol. 2003;32(5):312-4. doi: 10.1080/03009740310003974.
Chronic infantile neurological cutaneous articular (CINCA) syndrome is a rare disorder of unknown aetiology with neonatal onset, characterized by severe arthropathy, persistent skin rash and central nervous system disease. Joint involvement may vary from minimal swelling to destructive arthritis, with inability to stand or walk. The most striking findings of CINCA syndrome are cartilage anomalies with epiphyseal modifications and abnormal ossification, for which a pathogenetic role of tumour necrosis factor-alpha (TNF-alpha) is postulated. We describe a 4-year-old child affected with CINCA syndrome and presenting progressive joint disease, in whom non-steroidal anti-inflammatory drugs (NSAID) and systemic corticosteroidal therapy had been ineffective. Etanercept, anti-TNF-alpha therapy, was administered over a 6-month-period resulting in a dramatic improvement of the arthropathy. This good response to anti-cytokine treatment supports our hypothesis that TNF-alpha might play an important role in the pathogenesis of CINCA syndrome, which needs to be evaluated and confirmed in further studies.
慢性婴儿神经皮肤关节综合征（CINCA综合征）是一种病因不明的罕见疾病，起病于新生儿期，其特征为严重关节病、持续性皮疹和中枢神经系统疾病。关节受累情况从轻微肿胀到破坏性关节炎不等，可导致无法站立或行走。CINCA综合征最显著的表现是伴有骨骺改变和异常骨化的软骨异常，推测肿瘤坏死因子-α（TNF-α）在其发病机制中起作用。我们描述了一名4岁患CINCA综合征且患有进行性关节病的儿童，其使用非甾体抗炎药（NSAID）和全身性皮质类固醇治疗均无效。在6个月的时间里给予依那西普（抗TNF-α治疗），使关节病得到显著改善。这种对抗细胞因子治疗的良好反应支持了我们的假设，即TNF-α可能在CINCA综合征的发病机制中起重要作用，这需要在进一步研究中进行评估和证实。
