Introduction
Cherubism is a rare, genetically determined fibro-osseous disorder primarily affecting the jaws, most notably the mandible and maxilla. The condition derives its name from the characteristic facial appearance of affected individuals, which is reminiscent of cherubic angels depicted in Renaissance paintings. First described in the early 20th century, cherubism has since evolved from a clinical curiosity to an important subject of study in the fields of oral and maxillofacial pathology, genetics, and craniofacial surgery.
Historical Background and Significance
The term “cherubism” was coined by Dr. W.A. Jones in 1933, following the observation of peculiar, bilateral jaw swellings in a family. The affected children exhibited round, full cheeks and upward turning of the eyes, reminiscent of cherubs in classical art. Since then, sporadic and familial cases have been documented worldwide, highlighting the importance of recognising hereditary patterns and the need for genetic counselling. The rarity of cherubism, estimated at less than 1 in 1,00,000 individuals, underscores the necessity of awareness and accurate diagnosis among healthcare providers.
Etiology and Pathogenesis
Genetic Basis
Cherubism is primarily inherited in an autosomal dominant manner, although sporadic cases due to de novo mutations have also been reported. The disease is most commonly linked to mutations in the SH3BP2 gene located on chromosome 4p16.3. This gene encodes the SH3-domain binding protein 2, which plays a crucial role in bone remodelling and immune cell signalling. Mutations result in aberrant signalling pathways, leading to excessive bone resorption and replacement by fibrous tissue within the jawbones.
Inheritance Patterns
Being autosomal dominant, a single mutated allele of the SH3BP2 gene is sufficient to cause the condition. Penetrance is high, but expressivity varies, with some individuals exhibiting only mild radiographic changes, while others develop pronounced facial deformities. Rarely, cases of incomplete penetrance and variable expressivity have been observed, suggesting the influence of modifier genes or environmental factors.
Molecular Mechanisms
The pathogenesis of cherubism involves dysregulated osteoclastogenesis, with increased activity of osteoclasts leading to bone resorption and replacement by fibrovascular tissue. The mutated SH3BP2 protein amplifies signalling through pathways such as NFAT (nuclear factor of activated T-cells) and RANKL (receptor activator of nuclear factor kappa-Β ligand), resulting in enhanced osteoclastic differentiation and activity. Recent studies suggest that inflammatory mediators and cytokines, particularly TNF-α, may contribute to the local bone pathology observed in cherubism.
Clinical Presentation
Age of Onset and Progression
Cherubism typically manifests between 2 and 7 years of age, with progressive, painless swelling of the lower face. The condition often stabilises or regresses after puberty, although residual deformities may persist. The rate and extent of progression are variable, even within affected families.
Characteristic Facial Features
The hallmark of cherubism is bilateral, symmetrical enlargement of the mandible and, to a lesser extent, the maxilla. This results in a rounded, “cherubic” facial appearance, full cheeks, and, occasionally, upward tilting of the eyes due to orbital floor involvement. The skin overlying the affected areas remains normal. In severe cases, the expansion may cause dental malocclusion, displacement or failure of eruption of teeth, and difficulty in mastication or speech.
Radiographic Findings
Radiographs reveal multilocular, radiolucent lesions with well-defined borders, typically involving the angles and rami of the mandible and the maxillary tuberosities. The lesions may appear “soap-bubble” or “cystic,” with thinning and expansion of the cortical bone. Computed tomography (CT) and magnetic resonance imaging (MRI) provide detailed visualisation of the extent of bone involvement and involvement of adjacent structures.
Associated Symptoms
Although cherubism is usually confined to the jaws, rare cases with extra-gnathic involvement, such as the ribs or long bones, have been reported. Associated symptoms may include:
- Dental abnormalities: delayed eruption, malposition, or absence of teeth
- Malocclusion and difficulty in biting or chewing
- Speech difficulties due to jaw expansion
- Rarely, vision changes if the orbits are involved
- Infection or pain in advanced or complicated cases
Diagnosis
Differential Diagnosis
The clinical and radiological features of cherubism may overlap with several other jaw lesions and syndromes, necessitating careful differentiation. Key differential diagnoses include:
- Fibrous dysplasia
- Central giant cell granuloma
- Brown tumour of hyperparathyroidism
- Aneurysmal bone cyst
- Noonan syndrome
Clinical Examination
A thorough clinical examination, including assessment of facial symmetry, jaw expansion, dental anomalies, and family history, is essential. The presence of bilateral, symmetrical jaw swelling with a positive family history strongly suggests cherubism.
Imaging Studies
Panoramic radiography (orthopantomogram) is a valuable initial tool, revealing the characteristic multilocular radiolucent lesions. CT and MRI are useful for assessing the extent of osseous and soft tissue involvement, planning surgical intervention, and monitoring disease progression.
Genetic Testing
Molecular confirmation of SH3BP2 gene mutations is the gold standard for definitive diagnosis. Genetic counselling is strongly recommended for affected families, both to confirm the diagnosis and to inform reproductive decisions. In resource-limited settings, clinical and radiological features may suffice for diagnosis, especially in the presence of a clear family history.
Treatment and Management
General Principles
The management of cherubism is tailored to the severity of clinical presentation, the rate of progression, and the presence of functional or psychosocial impairment. As the disease often stabilises or regresses after puberty, a conservative, “wait-and-watch” approach is advocated for most cases. Multidisciplinary care involving maxillofacial surgeons, orthodontists, geneticists, and psychologists is crucial for optimal outcomes.
Surgical Approaches
Surgical intervention is reserved for severe cases with significant facial deformity, functional impairment (e.g., difficulty in chewing, speaking, or breathing), or complications such as infection. Surgery may involve curettage of the lesions, contouring of the jawbones, or resection of affected tissue. Timing of surgery is critical, as early intervention may trigger rapid regrowth of lesions, while delaying surgery until after puberty reduces this risk.
Non-Surgical Management
In mild to moderate cases, regular monitoring with clinical and radiological follow-up is sufficient. Orthodontic treatment may be required to manage dental malocclusion. In rare cases, pharmacological agents such as calcitonin, interferon-alpha, or bisphosphonates have been explored, but evidence for their efficacy remains limited.
Monitoring and Multidisciplinary Care
Long-term follow-up is essential to monitor disease progression, dental development, and psychosocial well-being. Early involvement of paediatric dentists, speech therapists, and psychologists can help address functional and emotional challenges faced by patients and families.
Prognosis
Natural Course of the Disease
Cherubism generally follows a benign course, with lesions stabilising or regressing after puberty. In most cases, the facial deformity becomes less pronounced in adulthood, and the jawbones may partially remodel. However, residual facial swelling, dental anomalies, and psychological impact may persist.
Long-term Outcomes and Quality of Life
The overall prognosis is favourable, with normal life expectancy and low risk of malignant transformation. However, quality of life may be affected by aesthetic concerns, dental problems, and, rarely, functional impairment. Timely psychological support and counselling can significantly improve coping and adaptation.
Nursing Care of Patients with Cherubism
As nurses play a vital role in the multidisciplinary management of patients with Cherubism, a comprehensive understanding of the condition, its progression, and appropriate nursing interventions is essential for optimal care and quality of life for patients and their families.
Nursing Assessment
Effective nursing care begins with a thorough assessment to identify the patient’s needs and concerns. This includes:
Physical Assessment
- Observation of facial symmetry and swelling
- Evaluation of oral cavity for dental anomalies, mucosal health, and oral hygiene
- Assessment of airway patency, particularly in severe cases
- Monitoring for signs of infection or ulceration in the oral cavity
- Assessment of vision and hearing, if orbital or auditory involvement is suspected
Psychosocial Assessment
- Evaluating the child’s self-esteem and emotional well-being
- Assessing for social withdrawal or bullying experiences due to facial differences
- Identifying family coping mechanisms and support systems
Developmental Assessment
- Monitoring for delays or impacts on speech, mastication, and nutrition
- Assessing for difficulties in academic or social development related to the condition
Nursing Interventions
1. Collaborative Care Coordination
Cherubism often requires a multidisciplinary approach, involving maxillofacial surgeons, dentists, orthodontists, speech therapists, genetic counselors, psychologists, and social workers. The nurse serves as a coordinator, ensuring seamless communication among the care team, the patient, and the family.
- Scheduling and facilitating referrals to appropriate specialists
- Assisting with preoperative and postoperative care if surgical intervention is indicated
- Organizing regular follow-ups and monitoring for progression or complications
2. Supporting Oral and Dental Health
Oral hygiene can be challenging due to swelling, dental anomalies, and discomfort.
- Educate patients and families about the importance of meticulous oral hygiene
- Demonstrate appropriate brushing and flossing techniques adapted to patient needs
- Recommend the use of soft-bristled toothbrushes and non-abrasive toothpaste
- Encourage regular dental visits for preventive care and early intervention of dental issues
- Monitor for signs of infection, caries, or gum disease and report promptly
3. Nutritional Support
Mastication difficulties, malocclusion, and dental loss can compromise nutritional intake.
- Assess dietary intake and identify barriers to adequate nutrition
- Provide guidance on soft, easy-to-chew foods if chewing is impaired
- Collaborate with dietitians to develop individualized meal plans
- Monitor growth parameters and weight regularly
- Educate families about nutritional supplements if indicated
4. Airway Management
Although rare, severe forms of Cherubism can cause airway obstruction due to jaw expansion.
- Monitor for respiratory distress, stridor, or sleep apnea symptoms
- Teach parents and caregivers to recognize early signs of airway compromise
- Prepare for emergency interventions if airway obstruction is suspected
- Coordinate with medical staff for sleep studies or ENT evaluations when needed
5. Emotional and Psychosocial Support
Facial differences can cause significant emotional and psychological stress for children and families.
- Provide a safe, nonjudgmental space for patients and families to express concerns
- Encourage participation in peer support groups or counseling
- Educate families about the genetic basis of the condition to alleviate guilt or stigma
- Collaborate with school counselors and teachers to promote social inclusion
- Promote self-esteem by focusing on strengths and achievements unrelated to appearance
6. Patient and Family Education
Empowering patients and caregivers with knowledge about the condition and its management is a fundamental nursing goal.
- Offer clear, age-appropriate explanations of Cherubism, its natural history, and prognosis
- Discuss the importance of regular monitoring, even if symptoms stabilize
- Review the potential need for surgical interventions and set realistic expectations
- Provide information on genetic counseling for families considering future pregnancies
- Disseminate resources from reputable organizations and support networks
7. Monitoring and Managing Complications
Nurses should remain vigilant for complications and intervene promptly as necessary.
- Monitor for secondary infections, particularly in the oral or maxillofacial region
- Watch for visual or auditory disturbances and refer for specialist evaluation
- Assess for speech or swallowing difficulties and arrange appropriate therapies
- Document all changes in clinical status and communicate with the healthcare team
Special Considerations for Pediatric Patients
Most patients with Cherubism are diagnosed in childhood. Pediatric nursing care involves additional sensitivity to the developmental, emotional, and educational needs of the child.
- Use age-appropriate communication techniques to build trust and cooperation
- Prepare children for medical or dental procedures using play and visual aids
- Involve the child in self-care tasks as appropriate for age and ability
- Work closely with families to develop individualized care plans that support normal childhood experiences
Role of the Nurse in Surgical Management
Surgical intervention in Cherubism is usually reserved for patients with severe cosmetic or functional impairment, or in cases where the disease does not regress after puberty.
- Preoperative education and preparation to reduce anxiety
- Assistance with perioperative care, including pain management and infection control
- Postoperative monitoring for bleeding, swelling, or complications
- Facilitate rehabilitation, including speech or physical therapy as needed
- Support emotional adjustment to postoperative changes in appearance or function
Long-term Follow-up and Prognosis
Cherubism typically stabilizes or regresses after puberty, with many patients experiencing significant improvement in facial appearance and function. Lifelong follow-up may be necessary, particularly for dental and psychosocial support.
- Promote adherence to regular follow-up visits with dental and medical specialists
- Encourage ongoing engagement with psychosocial support services
- Review and adjust care plans as the patient’s needs evolve
REFERENCES
- Chrcanovic BR, Guimarães LM, Gomes CC, Gomez RS. Cherubism: a systematic literature review of clinical and molecular aspects. https://pubmed.ncbi.nlm.nih.gov/32620450/. Int J Oral Maxillofac Surg. 2021 Jan;50(1):43-53.
- Genetic and Rare Diseases Information Center (U.S.). Cherubism. https://rarediseases.info.nih.gov/diseases/6036/cherubism. Last updated 2/2023.
- Kömerik N, Taş B, Önal L. Cherubism. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4022925/. Head Neck Pathol. 2014 Jun;8(2):164-167.
- Lahfidi A, Traore WM, Diallo ID, et al. Cherubism: a rare case report with literature review. https://pubmed.ncbi.nlm.nih.gov/35991385/. Radiol Case Rep. 2022 Aug;17(10):3971-3973.
- National Library of Medicine (U.S.). Cherubism. https://medlineplus.gov/genetics/condition/cherubism/. Last updated 6/1/2021.
- Papadaki ME, Lietman SA, Levine MA, Olsen BR, Kaban LB, Reichenberger EJ. Cherubism: best clinical practice. https://pubmed.ncbi.nlm.nih.gov/22640403/. Orphanet J Rare Dis. 2012 May;7 Suppl 1(Suppl 1):S6.
- Morice A, Kadlub N, Coudert A. Cherubism. 2007 Feb 26 [Updated 2025 Mar 20]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1137/
- Chrcanovic BR, Guimarães LM, Gomes CC, Gomez RS. Cherubism: a systematic literature review of clinical and molecular aspects. Int J Oral Maxillofac Surg. 2021 Jan;50(1):43-53.
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