基底细胞痣综合征影像表现

Imaging Manifestations of Basal Cell Nevus Syndrome

目的:探讨基底细胞痣综合征(BCNS)的临床及影像学表现。方法:搜集6例经病理和临床综合诊断证实的BCNS患者的临床和影像资料进行回顾性分析,总结分析其影像学表现。结果:6例(6/6)均有颌骨囊肿和颅内异常钙化灶,分别伴有皮肤多发基底细胞痣或手掌、足底点状凹陷4例(4/6),脊椎侧突或椎体融合4例(4/6)、肋骨分叉3例(3/6),透明隔囊肿1例(1/6),特殊面征4例(4/6),口腔症状6例(6/6),生殖系统发育异常或肿瘤2例(2/6),双眼分离性斜视1例(1/6)。结论:BCNS以颌骨囊肿为主要表现,常伴有其他器官的变异或病症,影像诊断为该病的确诊提供重要依据,对临床制定治疗方案具有重大临床意义。

Objective： To study the clinical and imaging manifestations of basal cell nevus syndrome （BCNS）. Methods：The clinical and imaging materials of six cases with BCNS diagnosed by pathology and clinical study were retro spectively analyzed. Results：All 6 cases （6/6） had jaw bone cyst and intra-cranial abnormal calcifications,accompanied with multiple basal cell nevi or palm/sole punctate depression in 4 cases （4/6） ,scoliosis or vertebral bodies fusion in 4 cases （4/6） ,forked rib in 3 cases （3/6） ,cyst of septum pellncidum in 1 case （1/6） ,specific sickly complexion in 3 cases （3/6） ,oral symptoms in 6 cases （6/6）,developmental anomaly or tumor of genital system in 2 cases （2/6）,binocular non concomitant strabismus in 1 case （1/6）. Conclusion：The main imaging manifestation of BCNS is jaw bone cyst,often accompanied with anomaly or disease of other organs. Imaging findings provide important evidence for final diagnosis of BCNS; and show sig nificant clinical value for treatment planning.