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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.

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Key words: cherubism, fibro-osseous,
autosomal dominant, postpubertal

 

 

 

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 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.

 

 

 

 

 

 

 

Table
1 Cherubism grading system according to Motamedi
and Raposo-Amaral

Grade
I:
Lesions of
the mandible without signs of root resorption

Class 1 solitary lesion of
the mandibular body
Class 2 multiple lesions of the mandibular body
Class 3 solitary lesion of the ramus
Class 4 multiple lesions of the rami
Class 5 lesions involving the mandibular body and rami

Grade
II:
Lesions
involving the mandible and maxilla without signs of root resorption

Class 1 lesions involving
the mandible and maxillary tuberosities
Class 2 lesions Involving
the mandible and anterior maxilla
Class 3 lesions involving
the mandible and entire maxilla

Grade
III
Aggressive
lesions of the mandible with signs of root resorption

Class 1 solitary lesion of
the mandibular body
Class 2 multiple lesions of
the mandibular body
Class 3 solitary lesion of
the ramus
Class 4 multiple lesions of
the mandibular rami
Class 5 lesions involving the mandibular body and rami

Grade
IV
Lesions
involving the mandible and maxilla and showing signs of root resorption

Class 1 lesions involving
the mandible and maxillary tuberosity
Class 2 Lesions involving
the mandible and anterior maxilla
Class 3 lesions involving
the mandible and entire maxilla

Grade
V
The rare, massively growing, aggressive, and extensively
deforming juvenile cases involving the maxilla and mandible, and may include
the coronoid and condyles

Grade
VI
The rare, massively growing, aggressive, and extensively
deforming juvenile lesions involving the maxilla, mandible and orbits

 

 

 

Case report
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. 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 occlusophathologie11.
The treatment plan for cherubic patients must be individually determined for
each patient as the severity varies between the cases, RR Addante et al. 12
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 13. 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 14,15. However surgical
intervention during growth phase showed relapse followed by more aggressive
clinical course 16. Shah et al. 17 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 8,18. 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. 19
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. 20 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 interests

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