Abstract that offers a cherubic appearance to the

 Abstract

Cherubism is a non-neoplastic
fibro-osseous lesion that is diagnosed among children based on its
characterization by bilateral painless enlargement of jaws that offers a
cherubic appearance to the affected persons. Cherubism treatment is combative
given that it is believed that the lesion regress at puberty but cases with
severe facial disfiguration can be corrected surgically. This case reports a 23-year-old
male reported to the Department of Oral and Maxillofacial surgery at National
Guard Health Affairs, King Abdulaziz Medical City, Riyadh, Saudi Arabia by his
mother with chief complaint of asymptomatic, progressive and bilateral
enlargement of the mandible. Based on facts and the clinical, historical,
family and radio-graphical findings this report prepared a cherubism diagnosis
of the patient. The purpose of this case report is to present the unusual postpubertal
cherubism.
Key words: cherubism, fibro-osseous,
autosomal dominant, postpubertal

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Introduction:Cherubism is a benign of an
autosomal dominant inherited fibro-osseous bone disease. William a. Jones 1933,
a Canadian radiologist described the condition first as familial multilocular
cystic disease of the jaws in three Jewish siblings 1. The upward gaze or
‘eyes to heaven’ results from lower lid retraction in relation to the diffuse
enlargement of the lower half of the face or to an upward displacement of the
eye from a mass involving the orbital floor 2. The lesion is characterized by
frequently symmetrical enlargement of the maxilla and mandible as a result of
the replacement of normal bone by proliferation of fibrovascular tissue
containing multinucleated giant cells 3. Usually The first signs of the
disease appear between 1 and 3 years of age 4. Motamedi 5 proposed a
grading system for cherubism in 1998 which was modified by Raposo-Amaral et al.
6 in 2007 (Table1). The authors in this article are reporting a case of a
23-year-old male patient with bilateral swelling of the lower jaw which was
diagnosed with cherubism grade I class 5.

Case reportA
23-year-old male reported to the Department of Oral and Maxillofacial surgery
at National Guard Health Affairs, King Abdulaziz Medical City, Riyadh, Saudi
Arabia by his mother with chief complaint of asymptomatic, progressive and
bilateral enlargement of the mandible. The history revealed that the patient
had been born as a full term normal delivery to a healthy 46 years old mother
with a low birth weight 1.2 kg thorough he was admitted to natal intensive care
unit and discharged after two weeks in good condition. The patient showed no
abnormalities until the age of 2, his mother noticed a symmetrical bilateral
enlargement of the lower face. This enlargement had continued progressive
fashion as the patient grows. Family history showed that his brother had a
similar fullness of the cheeks and passed away at the age of 13 without
underlying diagnosis. On physical examination, it was seen that patient has
mild intellectual disabilities (IDs). No abnormality was found on clinical
examination of the chest. cardiovascular examination revealed a positive nails
clubbing, and by auscultation the first and second heart sounds were normal
with no audible murmur. No cutaneous pigmentation or other congenital
abnormality was present; there was no evidence of endocrinal disturbance. On
extraoral examination normal color of the face was seen, Frontal bossing with
normal hair line, normal eyebrows, no epicanthic fold, no hypertelorism and
there was no ophthalmic abnormality. Normal nasal bridge, bilateral
asymmetrical enlargement of the mandible. The enlargement was nontender and
hard on palpation. On intraoral evaluation revealed multiple missing teeth in
both maxillary and mandibular arch as the mother gave a history of teeth
exfoliation in the last ten years.

 

Radiographic findings
Panoramic radiograph was taken and revealed an expansile, multilocular
radiolucencies with soap-bubble appearance distributed in the mandible involving
the ramus and body of the mandible extending up to parasymphyseal and symphseal
region as there is an extensive loss and impaction of multiple teeth (Fig. 1).
Patient was referred for plain CT scan of facial bones and 3D images were also
reconstructed in color rendered mode (Fig. 2) which revealed multiple expansile
multilocular radiolucencies in anterior 2/3rd ramus, extending up to
parasymphyseal and symphseal region causing buccolingual bone expansion with
bilateral involvement of the coronoid process sparing condyles with evident
larger swelling of the right side (Fig. 3).

Laboratory investigations
Laboratory investigations showed a hemoglobin level of 11.9 gm/dl (normal 13 to
18 gm/dl), hematocrit value of 38% (normal range between 40 to 52%), each being
slightly low, Parathyroid hormone level and other lab investigations were
within normal limits.

Mutation analysis
mutation
analysis of SH3BP2 was negative, no pathogenic variant was identified in exon 9
of the SH3BP2 gene in the submitted specimen. No pathogenic variant known to be
associated with cherubism was identified by this analysis of exon 9 of the SH3BP2
gene. While this gene consists of 13 exons. Almost all published pathogenic
variants have been missense changes located in exon 9 and affecting four
residues within a 6-amino acid motif (positions 415-420). In one study of 15
unrelated families, SH3BP2 pathogenic variants were identified in 80% of
individuals with clinically diagnosed cherubism 7. Although cherubism cannot
be excluded if no mutation in SH3BP2 was found because of possible
genetic heterogeneity 8.

Discussion

Cherubism is considered to be hereditary with
autosomal dominant pattern with 100% penetration in males and 50—70% in females
9. Although it belongs to the non-neoplastic bone lesions group that involves
the mandible. Manpreet Kaur et al. 3 reported the disease manifest itself in
childhood between the age of one to three years old. Cherubism may take various
clinical forms, from clinically unapparent with a mild form of cherubism to
highly aggressive 10. premature exfoliation of primary teeth and displacement
of the permanent dentition can be observed due to substitution of bone into a
fibrous tissue, resulting in occlusophathologie 5. The treatment plan for
cherubic patients must be individually determined for each patient as the
severity varies between the cases, RR Addante 11 reported that the extension
of lesions, the potential for pathologic fracture, and the high probability of
eventual regression must be considered. cherubism is expected to regress
spontaneously after puberty, however postpubertal actively expanding lesions
were also reported 12. Surgical intervention is indicated to improve
mastication, swallowing, phonation and aesthetic, breathing problems are
usually absent in cherubic patients, but the backward displacement of the tongue
can cause an upper airway obstruction 13,14. However surgical intervention
during growth phase showed relapse followed by more aggressive clinical course
15. Shah et al. 16 reported a case of cherubism in a 10-year-old child who
developed leiomyosarcoma after two surgical recontouring procedures. Curettage
was the dominating procedure in reports based on larger clinical studie 8,17.
Cherubism is known to be a hemorrhagic lesion, Raposo-Amaral et al. 6
reported an extensive resection was performed in two stages to prevent
excessive blood loss in 8 children age 6 to 15 years old with severe cherubism.
Henry.F et al. 18 reported on preoperative arterial embolization as there
were no unexpected bleeding during curettage and blood loss was minimized as a
two stages surgical procedure is not always applicable. However, Al-Omar et al.
19 reported a surgical intervention of postpubertal cherubism involving the
mandible and maxilla in a 20-year-old female as a single stage without
preoperative arterial embolization.

Conclusion

Cherubism is an autosomal dominant disorder
belongs to a group of non-neoplastic bone lesions affecting the jaws while the
severity ranges from no clinically or radiologically detectable features to
severe deformity. Patients parents usually seek medical attention mainly for
esthetic and functional concerns. it is necessary for the dentist to be
familiar with the condition for early detection.

Conflicts of interest
There
are no conflicts of interest.