Cherbuism

Case presentation

The Case

You noticed that your 4-year-old sister’s cheeks are increasing in size, and her eyes are turning upwards.

Case Analysis

Age : 4 years old child

Gender: female

Chief complaint: noticed that cheeks are increasing in size and her eyes are turning upwards painless

Medical status: not mentioned

Family history: not mentioned

Clinical Interpretation

Colored clinical photograph showing the patient’s face (hair, forehead, nose, upper and lower lips, chin, and her anterior teeth ) except the eyes.

Bilateral, symmetric, swilling in the maxilla and posterior region of the mandible .

Radiographic Interpretation

Bilateral numerus well defined radiolucencies of posterior maxilla and mandible (except the condyles) with fine, granular bone and wispy trabeculae forming a prominent multilocular pattern. (soap-bubble appearance)

Bilateral expansion of the jaws and thinning of the cortical plates.

Severely displaced permanent teeth into anterior direction.

Molars appear to be floating in cystlike spaces.

Differential diagnosis based on the clinical and

radiographic features

CherubismCentral giant

cell granulomaAneurysmal

bone cyst

Noonan-like multiple giant

cell lesions syndrome

Brown tumor of hyperparathyroidism and hyperparathyroidism-jaw tumor syndrome (HPT-JT).

Fibrous dysplasia

Cherubism

INCLUSION CRITERIA

Frequent in first decade especially (2-5 years).

Clinical findings: asymptomatic swilling of the jaws

Can affect both jaws.

Involvement of the maxilla causes eyes to turn upward

Radiographic findings: bilateral multilouculated radiolucencies of the posterior mandible and maxilla

soap-bubble appearance

Lesion cause bony expansion and thinning of the cortical plates

Often result in teeth displacement and loosening of teeth

EXCLUSION CRITERIA

2 :1 male predominance

Central Giant Cell Granuloma

INCLUSION CRITERIA

prevalent in children, with a higher frequency in females

Clinical findings: painless swilling in jaw

Radiographic findings: radiolucent expansion of the jaw and cortical plates are thinned

EXCLUSION CRITERIA

Clinical findings: rarely bilaterally

Radiographic findings: most CGCG are solitary radiolucent and tend to involve the jaws anterior to the permanent molars

Aneurysmal bone cyst

INCLUSION CRITERIA

Clinical findings: swilling that developed rapidly which is usually painless

Arise in the posterior segments of the jaw

Radiographic findings: unilocoular or multilocular radiolucent lesion associated with expansion and thinning of the cortical bones

EXCLUSION CRITERIA

The mean age in the jaws is 20years

Noonan-like multiple giant-cell lesion syndrome

INCLUSION CRITERIA

Present in infant and children

Radiographic findings: can bebilateral and multilocular radiolucencies.

Cortical expansion and displacement of the teeth in the affected jaw

EXCLUSION CRITERIA

NS classical features including short stature, short neck, pectus excavatum, widely spaced nipples, cryptochidism, typical craniofacial alterations, mental retardation, and congenital heart disease were not evident to our case

Genetic testing is important since NS is caused by mutations in PTPN11, KRAS, RAF1, MEK1 or SOS1

Brown Tumor of Hyperparathyroidism and Hyperparathyroidism–jaw tumor syndrome

INCLUSION CRITERIA

Radiographic findings: radiolucent jaws

Brown tumors can occur in both the maxilla and mandible

EXCLUSION CRITERIA

Rare in children

Clinical findings: asymptomatic and clinical presentation of the tumor in the jaws is rarely the first sign of the disease

Radiographic findings: decrease in the overall density of the jaws that contrast with the density of the radiopaque teeth which make them stand out and it has ground glass appearance

It is better to have analysis of parathyroid hormone levels, calcium, phosphorous and alkaline phosphatase.

Fibrous DysplasiaINCLUSION CRITERIA

Clinical findings: Painless expansion of bone and swilling of midface

EXCLUSION CRITERIA

Present usually at 15 to 30 yrs. of age

Radiographic findings: Ground glass appearance, NOT well demarcated

The lesion is asymmetrical and unilateral in nature and present in the the maxilla rather than the mandible

-Photomicrographs showing clusters

of multinucleated giant cells and

diffuse background of spindled

mononuclear cells, fresh

hemorrhage, and eosinophilic

fibrinous material

-Eosinophilic cufflike deposit

surrounding small blood vessels

*which is specific for Cherubism*

Histopathologic Features

Definitive Diagnose Is Cherubism

Benign self-limiting fibro-osseous disorder characterized by bilateral symmetrical swelling of lower face (mandible, maxilla or both) and upward gazing of the eyes

Radiographically, the lesions appear as multilocular bilateral radiolucent areas.

Generally diagnosed in children

Definitive Diagnose Is Cherubism

Familial disease in which the trait is transmitted in an autosomal dominant way. Mutations are mapped on the gene SH3BP2.

The diagnosis is based on clinical signs, patient age, family historyand radiographic findings, and can be confirmed by moleculargenetic testing (sequence analysis of SH3BP2 gene)

Cherubism has also been reported in association with Ramon syndrome, neurofibromatosis and, fragile X syndrome

Cherubism Classifications

Seward and Hankey (1957) suggested a grading system for cherubism.

Grade I: Involvement of bilateral mandibular molar regions and ascending rami, mandible body, or mentis

Grade II: Involvement of bilateral maxillary tuberosities (in addition to grade 1 lesions) and diffuse mandibular involvement

Grade III: Massive involvement of the entire maxilla and mandible, except the condyles

Grade IV: Involvement of both jaws, including the condyles

Management and Prognosis

The prognosis is unpredictable

Cherubism is usually a self-limiting condition and regresses with age.

Treatment depends on the clinical course of the disease and is suggested only in the cases of esthetic or functional needs.

Most investigators preferably rely on waiting until the end of puberty before planning for any surgical intervention.

Surgery is indicated only in aggressive cases with functional impairments like speech, chewing or swallowing, ocular disturbances, or with the presence of significant facial deformities that may affect the patient’s psychological state

Radiation is contraindicated

Prevention

Genetic counseling may be the only way to decrease occurrences of Cherubism.

Every child of the individual affected with cherubism has 50% chance of inheriting the mutation.

The optimal time to be tested for mutations is prior to having children.

The disease results from a genetic mutation, and this gene has been found to spontaneously mutate. Therefore, there may be no prevention techniques available.

So although it is rare, cherubism is evident since the 17th century

References

•Kuruvilla, V., Mani, V., Bilahari, N., & Kumar, R. (2013). Cherubism: Report of a case. Contemporary Clinical Dentistry, 4(3), 356. http://dx.doi.org/10.4103/0976-237x.118344

•Bufalino, A., Carrera, M., Carlos, R., & Coletta, R. (2010). Giant Cell Lesions in Noonan Syndrome: Case Report and Review of The Literature. Head And Neck Pathology, 4(2), 174-177. http://dx.doi.org/10.1007/s12105-010-0178-2

•Muthuraman, V., & Srinivasan, S. (2014). Familial Case of Cherubism from South India: Differential Diagnosis and Report of 2 Cases. Case Reports In Dentistry, 2014, 1-3. http://dx.doi.org/10.1155/2014/869783

•Bhattacharya, Surajit, and R. K. Mishra. "Fibrous dysplasia and cherubism." Indian journal of plastic surgery: official publication of the Association of Plastic Surgeons of India 48.3 (2015): 236.

•Ali, I., Karjodkar, F., Sansare, K., Salve, P., & Dora, A. (2016). Non-Familial Cherubism with Bilateral Maxilla and Mandible Involvement – Clinicoradiographic Findings. Cureus. http://dx.doi.org/10.7759/cureus.709

• Regezi, J., Sciubba, J., & Jordan, R. (2012). Oral pathology (6th ed.).

•Woo, S. (2012). Oral pathology (1st ed.).

•Neville, B., Damm, D., Allen, C., & Bouqout, J. Oral and Maxillofacial Pathology (3rd ed.). ELSEVIER.