Cherubism in a patient with noonan syndrome: Report of a case

Levine, Bernard; Skope, Leonard; Parker, Robert

doi:10.1016/0278-2391(91)90069-x

Cited by 28 publications

(5 citation statements)

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“…Later, in 1991, Cohen and Gorlin reviewed 15 cases with Noonan syndrome and giant cell lesions and proposed the name Noonan-like/multiple giant cell lesion syndrome and considered it to be separate from Noonan syndrome and cherubism [62]. Following that, 5 more cases of the Noonan-like/multiple giant cell lesion syndrome were published [63-65]. …”

Section: Diagnostic Considerations and Differential Diagnosismentioning

confidence: 99%

Cherubism: best clinical practice

Papadaki

Lietman

Levine

et al. 2012

Orphanet J Rare Dis

158

183

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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.

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Section: Diagnostic Considerations and Differential Diagnosismentioning

confidence: 99%

Cherubism: best clinical practice

Papadaki

Lietman

Levine

et al. 2012

Orphanet J Rare Dis

158

183

View full text Add to dashboard Cite

show abstract

“…Despite the aggressive appearance, surgical intervention is not necessary because the growth of these cells tend to regress. 13 Bilateral lesions in the mandible with appearance of multiple lesions of giant cells are considered characteristic of cherubism; 12-14 therefore, the lesions radiographically observed in this related case can be considered a cherubism form. Moreover, this affirmation is supported by the fact extragnathic lesions can also occur in cherubism.…”

Section: Discussionmentioning

confidence: 97%

Giant Cell Lesions with a Noonan-like Phenotype: A Case Report

Cm¹,

Gaião²,

M³

et al. 2007

The Journal of Contemporary Dental Practice

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Aim:The purpose of this article is to describe a case of multiple giant cell lesions of the mandible that occurred in a 14-year-old girl with phenotypic characteristics associated with Noonan Syndrome (NS).Background: NS is a dysmorphic disorder characterized by hypertelorism, short stature, congenital heart defects, short and webbed neck, skeletal anomalies, and bleeding diathesis.Report: A 14-year-old girl with a previous diagnosis of NS (sporadic case) presented with multiple radiolucent lesions in the body and ramus of her mandible. Summary:In terms of clinical behavior and the described radiographic characteristics, giant cells lesions with Noonan-like phenotype can be considered a form of cherubism. Therefore, surgical intervention is not necessary, but radiographic follow-up and observation is very important during the control and gradual regression of the lesions.

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“…11,12 The gene for cherubism has been mapped to seven mutations in the gene encoding SH3-binding protein SH3BP2 on chromosome 4p16.3 that cause cherubism. 10,11 The children affected with cherubism do not usually show mental or physical deformities, but when cherubism is associated with other syndromes like Noonan-like syndrome, 13,14 Ramon syndrome, 15 fragile X syndrome, mental and physical deformities may be seen. 16 Grading of cherubism based on the location of the jaw lesions have been described by Seward and Hankey 17 as follows:…”

Section: Discussionmentioning

confidence: 99%

Ramon's Syndrome: A Rare Entity

Lnu¹,

Peter²,

Nampoothiri³

et al. 2010

World Journal of Dentistry

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Introduction Ramon et al in 1967 described a condition, which included mental retardation, fibrous dysplasia of the maxilla and stunted growth. De Pino et al described a Brazilian family of four who had the same features as that of Ramon's syndrome in association with juvenile arthritis. Cherubism was first described in 1933 by Jones as ‘familial multilocular cystic lesion of the jaws’, a rare benign fibroosseous disease of the jaws, which is transmitted as an autosomal dominant trait. Affected children usually present before five years of age with painless progressive swelling of the cheeks, frequently associated with dental malformations. It progresses until puberty, and shows partial or complete spontaneous involution in adulthood; therefore, management is mostly conservative. The condition was initially characterized as familial, particularly as a form of craniofacial fibrous dysplasia. The children affected with cherubism do not usually show mental or physical deformities, but when cherubism is associated with other syndromes like Noonan-like syndrome, Ramon syndrome, and Fragile X syndrome, mental and physical deformities may be seen. Case Report This is a case report of a 12-year-old boy who reported with a massive painless bilateral swelling of the face, which has been increasing since the age of 2 years. The patient had multiple unerupted teeth, gingival hyperplasia, hearing loss and mental retardation. A detailed case report, including the histopathology, radiographic features (extraoral, CT and MDCT), and management of the case will be discussed in detail.

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Cherubism in a patient with noonan syndrome: Report of a case

Cited by 28 publications

References 1 publication

Cherubism: best clinical practice

Cherubism: best clinical practice

Giant Cell Lesions with a Noonan-like Phenotype: A Case Report

Ramon's Syndrome: A Rare Entity

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