Cherubism "case presentation "

Differential Diagnosis of Cherubism

1. Cherbuism Case presentation

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

3. Case Analysis Age : 4 years old child Gender: female Chief complaint: noticed that cheek s are increasing in size and her eyes are turning upwards painless Medical status : not mentioned Family history: not mentioned

4. 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 .

5. R adiographic I nterpretation 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) B ilateral expansion of the jaws and thinning of the cortical plates. S everely displaced permanent teeth into anterior direction. Molars appear to be floating in cystlike spaces.

6. Differential diagnosis based on the clinical and radiographic features

7. Cherubism Inclusion criteria Frequent in first decade especially (2-5 years). Clinical findings : asymptomatic swilling of the jaw s 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

8. Central G iant C ell G ranuloma 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

9. 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 20 years

10. Noonan-like multiple giant-cell lesion syndrome Inclusion criteria P resent in infant and children Radiographic findings : can be bilateral 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

11. Brown Tumor of Hyperparathyroidism and Hyperparathyroidism–jaw tumor syndrome Inclusion criteria Radiographic findings : r adiolucent 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.

12. Fibrous Dysplasia Inclusion criteria Clinical findings: Painless expansion of bone and swilling of midface Exclusion criteria P resent 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

13. Cherubism Central Giant Cell Granuloma Aneurysmal bone cyst

14. -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

15. Definitive Diagnose Is Cherubism B enign 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

16. 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 history and radiographic findings , and can be confirmed by molecular genetic testing (sequence analysis of SH3BP2 gene ) Cherubism has also been reported in association with Ramon syndrome, neurofibromatosis and, fragile X syndrome

17. 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

18. 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

19. Prevention G enetic 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.

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

21. 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.