普洛透斯综合征中的颅面骨增生症——一例报告
Craniofacial hyperostoses in Proteus syndrome -- a case report.
作者信息
Adolphs Nicolai, Tinschert Sigrid, Bier Jürgen, Klein Martin
机构信息
Department for Oral and Maxillofacial Surgery, Surgical Robotics and Navigation, University of Charité, Campus Virchow-Klinikum, Medizinische Fakultät der Humboldt-Universität, Berlin, Germany.
出版信息
J Craniomaxillofac Surg. 2004 Dec;32(6):391-4. doi: 10.1016/j.jcms.2004.06.007.
OBJECTIVE
Description of a patient with a rare syndrome leading to the partial overgrowth of craniofacial bones.
CASE REPORT
In a 17-year-old female patient with severe hyperostoses of the craniofacial bones asymmetric overgrowth of the right upper and left lower limbs, linear hyperpigmentation of the right arm and a history of regional lipomatosis were found. These manifestations were suggestive of Proteus syndrome. The management of the craniofacial involvement is described and a literature overview presented.
CONCLUSION
Proteus syndrome is a rare overgrowth syndrome probably related to a somatic mutation that involves craniofacial structures in about 30% of patients. Early diagnosis is required for adequate interdisciplinary treatment.
目的
描述一名患有罕见综合征导致颅面骨部分过度生长的患者。
病例报告
在一名17岁女性患者中，发现颅面骨严重骨质增生、右上肢和左下肢不对称过度生长、右臂线性色素沉着以及有局部脂肪瘤病史。这些表现提示为普洛提斯综合征。描述了颅面受累的治疗方法并进行了文献综述。
结论
普洛提斯综合征是一种罕见的过度生长综合征，可能与体细胞突变有关，约30%的患者会累及颅面结构。为进行充分的多学科治疗，需要早期诊断。
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