家族性巨颌症（Cherubism）又称家族性颌骨纤维异常增殖症、家族性颌骨多囊性病，是一种良性、自限性疾病。1933 年由William A. Jones首先报道。别名：小天使，胖娃娃脸。

临床表现：

   通常为双侧颌骨的无痛性肿大,病变主要侵犯下颌骨, 通常双侧累及，多见于下颌角区, 上颌骨也可侵犯。上颌病变广泛者可累及眶底和眶侧壁, 使眼球突出, 向上内翻,露出白色巩膜,可引起复视、视力减退等。

影像学表现：

• 上下颌骨呈多房状、大小不等的低密度影, 边界清楚, 有不规则的骨间隔, 骨皮质膨胀变薄, 有时可穿通、破坏。 
• 下颌骨病变以下颌角多见, 但髁状突和喙突通常不被侵犯。
• 上颌骨受累时表现为弥漫性骨密度减低, 扩展到上颌窦可使窦腔变小, 并可向上侵犯眶底, 使眼球受压。
• 在病变初期及进展期, X线特征主要为骨小梁稀疏的多房囊性阴影, 大多境界清楚；当病变进入静止期( 8-12岁), 房隔开始变厚,病灶密度逐渐上升, 可呈不均匀的近毛玻璃样改变;
• 20岁以后病变进入修复期, 病灶可呈颗粒状或完全被正常骨质填满而消失。

病例图片：

A. Photograph of a 10 year old girl with bilateral cheek and jaw swelling. Cherubism was confirmed with genetic testing that was positive for the SH3BP2 gene.The patient had genetic counseling and was followed longitudinally. B. Patient one year later with no progression of facial swelling. C. CT scan at initial presentation showed typical bilateral lytic lesions in the mandible that remained unchanged at follow ups.

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以下是 http://radiopaedia.org/articles/cherubism

Cherubism has historically been considered a variant of fibrous dysplasia, but in reality is likely a distinct entity. 

家族性巨颌症曾被认为是纤维结构不良的一种变异，但实际上更象是一个独立的疾病。

Epidemiology流行病学

Cherubism is inherited as an autosomal dominant disorder of variable penetrance, with onset in early childhood (typically in the 3-4 years of age). Interestingly penetrance is dependent on gender: 100% in males, 50-70% in females. 

家族性巨颌症是常染色体显性遗传性疾病，在儿童早期发病（通常在3-4岁）。有趣的是外显率是依赖于性别：男性发病率100％，女性发病率50％-70％。

Clinical presentation临床症状

Clinical presentation is due to characteristic cosmetic changes in the face, consisting of:

• bilateral usually symmetric jaw fullness with slight upward turning of eyes
• bilateral expansile multiloculated cystic masses with symmetric involvement of mandible and maxilla

Additionally submandibular lymph node enlargement may also be present. The teeth in the affected regions may be loose and tooth eruption delayed.

临床表现是根据脸部特征性的表现而改变，其中包括：

• 通常双侧下颌对称丰满，眼睛轻微向上翻转
• 双侧膨胀性多房囊性肿块，下颌骨和上颌骨对称受累

此外可能存在颌下淋巴结肿大，受累区域的牙齿可能松动和牙齿萌出延迟

Pathology病理学

Histological features are indistinguishable from a giant cell granuloma.

组织学上与巨细胞肉芽肿相似。

Radiographic features影像学表现

Radiographic features consists of lucent expanded regions within the maxilla and mandible, with soap-bubble appearance. As the lesion ages it often becomes sclerotic and may reduce in size.

影像学特征包括上下颌骨内多发膨胀性透亮影，呈皂泡样改变。病灶随着的年龄增长趋向硬化和体积缩小。

Treatment and prognosis

Despite the pronounced changes, the disease stabilises and often regresses without the need for treatment.

History and etymology

A cherub is a toddler or baby angel, often portrayed in art to have chubby cheeks and an upward gaze. In fact, such a divine being is more accurately called a putto, but in modern English usage the terms have become blurred, and patients with cherubism are implied to have a cherub-like facies.

来源：华夏影像诊断中心