Clinical and radiological evaluation of cherubism: a sporadic case report and review of the literature

Abstract

Many cases have been published on cherubism since Jones described it first time in three children of the same family [Am. J. Cancer 17 (1933) 946]. Cherubism is an autosomal-dominant disorder in which the normal bone is replaced by cellular fibrous tissue and immature bone. Extracranial skeletal involvement is rarely seen in hereditary and non-hereditary forms of the disorder. The mandible is the most severely affected craniofacial component, in which uncontrolled growth of the malady deteriorates the aesthetic balance of the face. Bilateral swelling of the cheeks, mandibular enlargement and maxillary spongious hypertrophy cause orbital manifestations and tendency of eyes looking up to the sky. Thus, the pathognomic clinical feature resembles the appearance of “raised to heaven’’ Renaissance cherubs. The sporadic case concerns a child affected by cherubism. Radiographic and clinical data of the patient are presented and brief review of the literature is included.

Introduction

Canadian Jones described three siblings with bilateral fullness of cheeks and jaw enlargement as a familial multilocular disease in 1933 [1]. Mandibular enlargements together with uncontrolled maxillary growth push the orbital base upward. This expansion causes exposure of lower rim of the sclera, upturned eyes, rounded appearance of the face, which mimics the Renaissance cherubs. So that, Jones was inspired to name the condition as “cherubism” [2], [3].

Cherubism is an autosomal-dominant hereditary self-limiting fibro-osseous dysplasia with trait of variable expressivity, affecting both jaws bilaterally in childhood and adolescence [2], [3], [4], [5], [6], [7], [8], [9], [10], [11]. It has no relationship to fibrous dysplasia as previously thought [2]. Extragnathic bony involvement is also encountered rarely, such as rarefaction or cyst-like lesions in ribs [5], [12], humerus [6], femur and tibia [7].

The inherited autosomal dominant trait has 100% penetrance in males and 50–70% penetrance in females [13]. Sporadic cases have also been reported [14], [15], [16]. The mean age of diagnosis is considered as 7 years with a range of 14 months to 12 years [17]. The benign disease is characterized by progressive cystic proliferation of the mandible and maxilla during the childhood, which is followed by self-involution in puberty [18] and bone remodeling in adulthood [19].

The lesion may cause premature exfoliation of the deciduous teeth and displacement of permanent teeth [2], [8], [20], [21]. Early lesions are usually localized at the bilateral mandibular rami and angles. Maxillary lesions could be skipped during radiographic assessment by the overlapping of maxillary sinuses and nasal cavity. Expansion of maxillary alveolus sometimes resembles as V-shaped palatal arches [21], [22].

Lymph nodes, usually involved during the active onset of the disease, are non-tender, mobile, large and discrete [9], [17], [23]. In 1976, Fordyce and Wedgwood, as quoted by Arnott [9], depending on location and severity of the lesions of fibroosseous expansion, suggested a classification system. Accordingly, grade-I concerns the involvement of both mandibular ascending rami; grade-II corresponds to the involvement of both maxillary tuberosities as well as of the mandibular ascending rami; and grade-III includes rare, massively growing, aggressive and extensively deforming juvenile cases involving the maxilla and mandible, and may include the coronoids and condyles [3].

The treatment choice stands as a confusing entity. General attitude in the management of the patient is to wait for the child to grow up, because spontaneous regression and involution is thought to occur in adulthood [2]. Although consensus is “wait and see”, all multilocular radiolucencies do not fill entirely after adulthood and spontaneous regression without any treatment is lacking [24], [25].

The behavioral pattern, aesthetic demands, psychological condition and functional impairment such as deglutition, speech and ocular disturbances may determine the surgical correction in aggressive cases [26]. Radiotherapy is contraindicated to prevent the formation of fibrosarcoma and osteoradionecrosis [17], [27].