Prescott Trine, Redfors Maria, Rustad Cecilie Fremstad, Eiklid Kristin Louise, Geirdal Amy Østertun, Storhaug Kari, Jensen Janicke Liaaen
Department of Medical Genetics, Oslo University Hospital, P.O. Box 4950, Nydalen, 0424 Oslo, Norway.
Eur J Med Genet. 2013 Mar;56(3):131-7. doi: 10.1016/j.ejmg.2012.12.008. Epub 2013 Jan 5.
Bilateral multilocular radiolucencies of the mandible are the main feature of cherubism (OMIM #118400), a rare autosomal dominant disorder primarily affecting the jaw. Typically, symmetrical swelling of the lower face is evident from around three years of age and increases until puberty. The underlying radiolucent lesions consist of vascular fibrotic stroma with scattered multinuclear giant cells. By age 30 years the facial contours are often unremarkable. Missing and displaced teeth as well as premature tooth loss are characteristic. Diagnosis rests upon a combination of clinical, radiographic, histological and molecular findings. SH3BP2 is currently the only gene known to be associated with cherubism. This cross-sectional study describes oral manifestations, quality of life and results of mutation analysis of SH3BP2 in 11 females and 13 males ages five to 84 years with cherubism. One individual with molecularly confirmed Noonan syndrome was excluded from the cohort. Standard statistical tools were used to analyze quality of life data. Mutation analysis was positive in all 22 familial and negative in both sporadic cases. Disease manifestations in mutation carriers varied from none to severe. Although intra-familial variability was marked, we found no evidence of non-penetrance, and females were on average more severely affected than males. Dental sequelae were pronounced; adults lacked a mean of 13 teeth (range 2-28), 13 of 17 individuals aged 16 years and older had removable or fixed dentures and five had dental implants; implant survival rate was 79%. In spite of pronounced disease manifestations and dental sequelae, adult quality of life was good.
下颌骨双侧多房性透射区是 cherubism（在线人类孟德尔遗传数据库编号#118400）的主要特征，cherubism 是一种罕见的常染色体显性疾病，主要影响颌骨。通常，从大约三岁起可见下脸部对称性肿胀，并持续增大直至青春期。潜在的透射性病变由含有散在多核巨细胞的血管纤维性基质组成。到 30 岁时，面部轮廓通常不明显。牙齿缺失、移位以及过早失牙是其特征。诊断基于临床、影像学、组织学和分子学检查结果的综合判断。SH3BP2 是目前已知与 cherubism 相关的唯一基因。这项横断面研究描述了 11 名女性和 13 名年龄在 5 至 84 岁的患有 cherubism 的男性的口腔表现、生活质量以及 SH3BP2 突变分析结果。一名分子学确诊为努南综合征的个体被排除在队列之外。使用标准统计工具分析生活质量数据。22 例家族性病例的突变分析均为阳性，2 例散发性病例均为阴性。突变携带者的疾病表现从无到严重不等。尽管家族内变异性明显，但我们未发现非外显的证据，且女性平均比男性受影响更严重。牙齿后遗症明显；成年人平均缺牙 13 颗（范围为 2 - 28 颗），17 名 16 岁及以上个体中有 13 人佩戴了可摘或固定假牙，5 人进行了牙种植；种植体存活率为 79%。尽管有明显的疾病表现和牙齿后遗症，但成年人的生活质量良好。
