一名经COMP基因突变确诊为假性软骨发育不全的患者出现手腕疼痛性绞锁。

Ideta Hirokazu, Uchiyama Shigeharu, Hayashi Masanori, Kosho Tomoki, Nakamura Yukio, Kato Hiroyuki

Department of Orthopaedic Surgery, Shinshu University School of Medicine, Matsumoto, Japan.

Department of Orthopaedic Surgery, Shinshu University School of Medicine, Matsumoto, Japan

J Surg Case Rep. 2017 Jan 2;2017(1):rjw216. doi: 10.1093/jscr/rjw216.

We report the case of a 40-year-old woman with pseudoachondroplasia (PSACH), with a heterozygous mutation (c.806A > G, p.Asp269Gly) located in the Type 3 repeats domain of the cartilage oligomeric matrix protein gene, who complained of the unusual symptom of painful locking of the wrist. Her condition was caused by a non-traumatic enlargement of the extensor carpi radialis longus (ECRL) and brevis (ECRB) tendons along with bulbous swelling of the synoviums around them. Surgical treatment resolved these unusual tendon-related symptoms. Repetitive mechanical loading of the wrist in daily activities, including distal intersection tenosynovitis between the extensor pollicis longus tendon and ECRL and ECRB tendons, may have contributed to changes in the structural integrity of the tendons. We should pay more attention to tendon-related symptoms in patients with PSACH.

我们报告了一例40岁的假性软骨发育不全（PSACH）女性患者，其软骨寡聚基质蛋白基因3型重复结构域存在杂合突变（c.806A > G，p.Asp269Gly），该患者主诉手腕疼痛性绞锁这一异常症状。她的病情是由桡侧腕长伸肌（ECRL）和桡侧腕短伸肌（ECRB）肌腱非创伤性肿大以及周围滑膜球茎状肿胀所致。手术治疗解决了这些与肌腱相关的异常症状。日常活动中手腕的重复性机械负荷，包括拇长伸肌腱与ECRL和ECRB肌腱之间的远侧交叉腱鞘炎，可能导致了肌腱结构完整性的改变。我们应更加关注PSACH患者的肌腱相关症状。