痣样基底细胞瘤综合征(nevoid basal cell carcinoma syndrome)又称颌骨囊肿-基底细胞痣-肋骨分叉综合征或Gorlin综合征。1951年Binkley和Johnson首先叙述了此综合征,1960年Gorlin和Goltz进行了详细讨论。此综合征比较复杂,包含多种异常表现,主要有:①多发性牙源性角化囊肿;②多发性皮肤痣样基底细胞癌;③骨骼异常,特别是肋骨(常为分叉)和脊椎骨异常;④额部和颞顶部隆起,眶距过宽和轻度下颌前凸,形成特征性面部表现;⑤钙、磷代谢异常,表现有脑膜钙化和服用甲状旁腺素之后缺乏磷酸盐尿的排出。痣样基底细胞癌患者较年轻,常有家族史,具有常染色体显性遗传特征(fig.16=肋骨分叉;fig.17=颌骨囊肿伴子囊;fig.18=唇基底细胞癌)。
多发性基底细胞痣综合征 为家族性,属于常染色体显性遗传病。其特征是:多发性基底细胞痣或基底细胞癌、颌骨多发性囊肿、肋骨畸形、颅内钙化。临床表现为:①颌骨牙源性角化囊肿(下颌骨多于上颌骨,单发或多发,常为双颌同时累及);②痣样基底细胞癌(主要发生于面部、颈部、躯干上部、眶周、眼睑、鼻、颧突等部位;上唇为面部最常发部位,一般为单侧。多数病损处于静止状态);③肋骨畸形(包括分叉肋、融合肋、肋骨发育不全或部分缺失);④颅内钙化(最常见为大脑镰钙化,其次为小脑幕钙化)。
与常染色体显性遗传有关,外显率高达95%。本综合征特点有:多发性痣样基底细胞上皮瘤、多发性颌骨囊肿、分杈肋及其他骨骼异常、中枢神经系统改变。本病患者可出现颅内钙化,头颅CT扫描可见大脑镰、小脑幕、硬脑膜及基底节区出现钙化灶。
Radiologic Overview of the Diagnosis:
Basal cell nevus syndrome:
Key radiographic findings in basal cell nevus syndrome include odontogenic keratocysts (as described above), rib anomalies, vertebral anomalies, dural calcifications, and short metacarpals. These patients are at increased risk for medulloblastoma and cardiac and ovarian fibromas.
Key Points:
Multiple odontogenic keratocysts should raise concern for the possibility of basal cell nevus syndrome (Gorlin-Goltz syndrome).
This syndrome is a genetic condition characterized by multiple nevoid basal cell carcinomas.
Basal cell nevus syndrome has several other associations including: odontogenic keratocysts, dural calcifications, rib and vertebral anomalies, short metacarpals, and midface hypoplasia.
These patients are at increased risk for medulloblastoma and cardiac and ovarian fibromas.
http://education.auntminnie.com/QMachine.ASP?UID=25G14GM7&PageId=5&Sess=6977960
没有评论:
发表评论