Cherubism: best clinical practice.
Cherubism: best clinical practice.
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DOI：
10.1186/1750-1172-7-s1-s6
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发表时间：
2012-05-24
影响因子：
3.7
通讯作者：
Reichenberger EJ
中科院分区：
文献类型：
--
作者：
Papadaki ME;Lietman SA;Levine MA;Olsen BR;Kaban LB;Reichenberger EJ
小天使畸形是一种骨骼发育不良，其特征是双侧和对称的纤维骨病变，局限于下颌骨和上颌骨。在大多数患者中，小天使症是由于染色体4p16.3上SH3BP2基因的显性突变引起的。受影响的儿童在出生时表现正常。颌骨肿胀通常出现在2至7岁之间，之后，病变增殖并增大，直到青春期。病变随后开始退化，充满骨骼并重塑，直到30岁时才被发现。纤维骨性病变，包括那些在小天使已经分类为静态，非侵袭性和侵袭性根据临床行为和影像学表现。静止小天使病变通常见于老年患者，不表现出进行性增长。非侵袭性病变最常见于青少年。小血管病的侵袭性病变发生在幼儿身上，体积大，生长迅速，可能导致牙齿移位，牙根吸收，皮质骨变薄和穿孔。因为小天使病通常是自限性的，手术治疗可能是不必要的。大多数病例的初始治疗是纵向观察和随访。手术干预刮除，轮廓或切除可能指功能或美观的原因。外科手术通常在疾病静止时进行。侵袭性病变导致严重的功能问题，如气道阻塞，需要早期手术干预。
Cherubism is a skeletal dysplasia characterized by bilateral and symmetric fibro-osseous lesions limited to the mandible and maxilla. In most patients, cherubism is due to dominant mutations in the SH3BP2 gene on chromosome 4p16.3. Affected children appear normal at birth. Swelling of the jaws usually appears between 2 and 7 years of age, after which, lesions proliferate and increase in size until puberty. The lesions subsequently begin to regress, fill with bone and remodel until age 30, when they are frequently not detectable. Fibro-osseous lesions, including those in cherubism have been classified as quiescent, non-aggressive and aggressive on the basis of clinical behavior and radiographic findings. Quiescent cherubic lesions are usually seen in older patients and do not demonstrate progressive growth. Non-aggressive lesions are most frequently present in teenagers. Lesions in the aggressive form of cherubism occur in young children and are large, rapidly growing and may cause tooth displacement, root resorption, thinning and perforation of cortical bone. Because cherubism is usually self-limiting, operative treatment may not be necessary. Longitudinal observation and follow-up is the initial management in most cases. Surgical intervention with curettage, contouring or resection may be indicated for functional or aesthetic reasons. Surgical procedures are usually performed when the disease becomes quiescent. Aggressive lesions that cause severe functional problems such as airway obstruction justify early surgical intervention.