Fadili Omar, El Khaymy Khalid, Bouzid Youssef, El Adaoui Oussama, El Andaloussi Yassir, Fadili Mustapha
Department of Trauma Surgery and Orthopedics, Ibn Rochd University Hospital Center, Casablanca.
Faculty of Medicine and Pharmacy of Casablanca, Hassan II University, Morocco.
Ann Med Surg (Lond). 2023 May 17;85(6):2985-2989. doi: 10.1097/MS9.0000000000000678. eCollection 2023 Jun.
Ollier disease is a rare genetic disorder characterized by the development of multiple enchondromas. The clinical manifestations of the disease vary widely, but patients often present with bone deformities and an increased risk of developing chondrosarcoma. Here, the authors present a case report of a 25-year-old male patient with a devastating and historic evolution of Ollier disease.
At the age of 10, the patient developed a sub-centimeter mass in the first phalanx of the left middle finger, which subsequently grew in size. A biopsy was performed at the age of 14, which confirmed the diagnosis of chondroma. At the age of 14, the patient developed multiple large masses on the left hand, resulting in the amputation of his left hand. At 25 years old, the patient developed new masses in his contralateral hand and left foot.
Ollier disease is caused by somatic mutations in the PTH/PTHrP receptor gene, leading to the formation of multiple enchondromas. Patients with Ollier disease are at an increased risk of developing chondrosarcoma, which can be life-threatening. The diagnosis of Ollier disease is usually made based on clinical and radiographic findings, and genetic testing can confirm the diagnosis. Treatment is typically focused on managing the symptoms and preventing the development of chondrosarcoma.
The authors presented a case report of a patient with a devastating and historic evolution of Ollier disease. This case highlights the importance of early diagnosis and management of this disease to prevent the development of chondrosarcoma and minimize the risk of complications. Further research is needed to better understand the underlying mechanisms of the disease and develop effective treatments.
骨软骨瘤病是一种罕见的遗传性疾病，其特征是多发性内生软骨瘤的形成。该疾病的临床表现差异很大，但患者常出现骨骼畸形以及患软骨肉瘤风险增加。在此，作者报告一例25岁男性骨软骨瘤病患者的严重且具有代表性的病情发展情况。
患者10岁时，左手中指近节指骨出现一个小于1厘米的肿块，随后肿块增大。14岁时进行了活检，确诊为软骨瘤。14岁时，患者左手出现多个大肿块，导致左手截肢。25岁时，患者对侧手和左脚出现新的肿块。
骨软骨瘤病由甲状旁腺激素/甲状旁腺激素相关蛋白受体基因的体细胞突变引起，导致多发性内生软骨瘤的形成。骨软骨瘤病患者患软骨肉瘤的风险增加，这可能危及生命。骨软骨瘤病通常根据临床和影像学表现进行诊断，基因检测可确诊。治疗通常侧重于控制症状和预防软骨肉瘤的发生。
作者报告了一例骨软骨瘤病患者严重且具有代表性的病情发展情况。该病例强调了早期诊断和管理这种疾病对于预防软骨肉瘤发生以及将并发症风险降至最低的重要性。需要进一步研究以更好地了解该疾病的潜在机制并开发有效的治疗方法。
