Zhang Hengyan, Yang Bo
Department of Orthopedics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College (CAMS & PUMC), Beijing, China.
Medicine (Baltimore). 2017 Nov;96(47):e8865. doi: 10.1097/MD.0000000000008865.
Pachydermoperiostosis (PDP) is a rare hereditary disorder that affects the skin and bones. PDP is characterized by periostosis, digital clubbing, and pachydermia. Previous studies demonstrated that increased prostaglandin E2 (PGE2) levels resulting from defective protein degradation pathways play a crucial role in PDP pathogenesis, and males were more commonly and severely affected than females. Moreover, nearly all PDP patients suffer from refractory arthralgia. Although several different treatment modalities are used for PDP, therapy for this disease remains challenging.
Two cases of PDP showing symptoms consistent with polyarthritis and arthralgia that mainly affected the knees and ankles.
The diagnostic criteria for PDP include digital clubbing, periostosis, and pachydermia. The 2 patients were diagnosed as PDP based on the finger clubbing, facial cutis furrowing, knee and ankle arthritis, and radiographic evidence of periosteal proliferation.
Patient 1 had massive joint effusion that was treated by oral administration of etoricoxib and aescin combined with arthroscopic synovectomy, whereas Patient 2 had mild joint swelling and accepted only oral medication.
Clinical symptoms of the 2 patients greatly improved after the treatment. During the 1-year follow-up, the patient experienced no adverse effects or recurrence.
The therapeutic results showed that oral etoricoxib could reduce inflammation and retard progression of pachydermia, or even relieve facial skin furrowing, but had limited efficacy for arthralgia. However, oral aescin had satisfactory efficacy for arthralgia. Thus, etoricoxib combined with aescin is a safe and effective treatment for PDP. Meanwhile, arthroscopic synovectomy can be used to treat joint effusion, but had no therapeutic effect on arthralgia. Therefore, postoperative oral medications would be needed as subsequent therapy for joint problems. In conclusion, this study proposes an effective and safe treatment plan to address symptoms experienced by PDP patients.
厚皮性骨膜病（PDP）是一种影响皮肤和骨骼的罕见遗传性疾病。PDP的特征是骨膜增生、杵状指和厚皮症。先前的研究表明，蛋白质降解途径缺陷导致前列腺素E2（PGE2）水平升高在PDP发病机制中起关键作用，且男性比女性更常受累且病情更严重。此外，几乎所有PDP患者都患有难治性关节痛。尽管针对PDP使用了几种不同的治疗方式，但该疾病的治疗仍然具有挑战性。
两例PDP患者表现出与多关节炎和关节痛一致的症状，主要影响膝盖和脚踝。
PDP的诊断标准包括杵状指、骨膜增生和厚皮症。这两名患者根据手指杵状变、面部皮肤皱纹、膝盖和踝关节关节炎以及骨膜增生的影像学证据被诊断为PDP。
患者1有大量关节积液，通过口服依托考昔和七叶皂苷联合关节镜下滑膜切除术进行治疗，而患者2有轻度关节肿胀，仅接受口服药物治疗。
两名患者治疗后临床症状有很大改善。在1年的随访期间，患者未出现不良反应或复发。
治疗结果表明，口服依托考昔可减轻炎症并延缓厚皮症进展，甚至缓解面部皮肤皱纹，但对关节痛疗效有限。然而，口服七叶皂苷对关节痛有满意疗效。因此，依托考昔联合七叶皂苷是治疗PDP的安全有效方法。同时，关节镜下滑膜切除术可用于治疗关节积液，但对关节痛无治疗作用。因此，术后需要口服药物作为关节问题的后续治疗。总之，本研究提出了一种有效且安全的治疗方案来解决PDP患者的症状。
