Rheumatology and Rehabilitation Department, Faculty of Medicine, Cairo University, Cairo, Egypt; Rheumatology and Rehabilitation Department, Dr. Erfan and Bagedo General Hospital, Jeddah, Saudi Arabia.
Joint Bone Spine. 2013 Oct;80(5):520-2. doi: 10.1016/j.jbspin.2013.01.010. Epub 2013 Aug 6.
Familial arthropathy associated with congenital camptodactyly has been previously recognized as a definite clinical entity in the literature. The clinical spectrum of this disease seems to be variable. The typical features of congenital camptodactyly, arthropathy, coxa vara and pericarditis (CACP syndrome) appear to be a more frequent presentation in children from the Middle East and North Africa. Musculoskeletal presentation of this rare familial form of arthropathy is unique and heterogeneous. In all previous reports, non-inflammatory pattern of arthropathy involving the peripheral joints with typical coxa vara deformity were described, and in a few cases spine abnormalities, including kyphosis, lordosis, or scoliosis. We describe the first case of axial involvement in a typical case of CACP syndrome with facet joint arthropathy and ankylosis at L5/S1 levels.
先前的文献已经明确指出，先天性掌屈指畸形相关的家族性关节病是一种确定的临床实体。这种疾病的临床表现似乎存在多样性。先天性掌屈指畸形、关节病、髋内翻和心包炎（CACP 综合征）的典型特征似乎在中东和北非地区的儿童中更为常见。这种罕见的家族性关节病的骨骼肌肉表现是独特且异质的。在所有以前的报告中，描述了外周关节受累的非炎症性关节病，具有典型的髋内翻畸形，少数情况下还存在脊柱异常，包括后凸、前凸或脊柱侧凸。我们描述了首例 CACP 综合征的轴性受累病例，该病例表现为腰骶关节关节病和 L5/S1 水平的关节强直。
