What other types of cancer could cause progressive facial asymmetry in a child?

Malignant Causes of Progressive Facial Asymmetry in Children

The American Academy of Pediatrics emphasizes that rhabdomyosarcoma and neuroblastoma are the primary aggressive cancers to exclude in children with progressive facial asymmetry, though these typically present with rapid progression and associated symptoms rather than isolated slow asymmetry over one year. 1

Primary Malignancies to Consider

Rhabdomyosarcoma

Rhabdomyosarcoma is the most important malignant cause of progressive facial asymmetry in children and requires urgent exclusion. 1

• Typically presents with rapid progression rather than slow evolution over months to years, making it less likely with isolated gradual asymmetry 1
• Commonly involves the head and neck region including parameningeal sites, orbit, and facial soft tissues 1
• Associated red flags include: rapid acceleration of growth rate, development of proptosis or ptosis, vision changes, pain in the affected area, and skin fixation or overlying erythema 1
• Requires MRI of brain and orbits with contrast as the preferred initial imaging study to identify soft tissue masses and orbital involvement 1

Neuroblastoma

Neuroblastoma rarely presents with isolated facial asymmetry as the sole manifestation and usually involves systemic symptoms or orbital metastases 1

• Warning signs include: new systemic symptoms, periorbital ecchymosis ("raccoon eyes"), palpable abdominal mass, and bone pain or limping 1
• Isolated facial asymmetry without other symptoms over one year makes neuroblastoma unlikely 1

Facial Nerve Tumors

Facial nerve schwannoma or other tumors affecting the facial nerve pathway can cause progressive asymmetry and require contrast-enhanced MRI for detection 2

• Requires contrast administration to detect enhancing lesions along the facial nerve pathway from brainstem to peripheral branches 2
• May present with incomplete or mild facial nerve dysfunction that becomes apparent only with voluntary facial movement 2

Cancer Predisposition Syndromes

Beckwith-Wiedemann Syndrome (BWS)

BWS should be considered even with isolated facial hemihyperplasia, as affected patients are predisposed to certain malignancies, especially in the first 5 to 8 years of life 3

• Can present as isolated facial overgrowth involving the cheek and teeth, though typically manifests more extensive involvement 3
• Requires specialized surveillance as part of management due to malignancy risk 3
• Diagnosis confirmed by detection of methylation abnormality in H19 (DMR1) 3

Schinzel-Giedion Syndrome (SGS)

SGS shows striking enrichment for tumors in the sacrococcygeal region including malignant teratomas, primitive neuroectodermal tumors, and anaplastic extradural ependymal tumors 4

• Also associated with juvenile myelomonocytic leukemia, hepatoblastoma, and malignant retroperitoneal tumors 4
• Caused by de novo germline gain-of-function pathogenic variants in SETBP1 4
• Most patients do not survive beyond the first decade of life 4

Critical Diagnostic Approach

Immediate Imaging Requirements

The American College of Radiology recommends brain MRI with contrast as first-line imaging to evaluate for intracranial mass, tumor affecting facial nerve, or cerebrovascular pathology 5, 2

• Non-contrast MRI and CT miss critical pathologies including isodense tumors, subtle masses, meningeal infiltration, and vascular malformations 2
• Tumors affecting the facial nerve, meningeal infiltration, and enhancing lesions require contrast for detection 2
• MRI orbit/face/neck with and without IV contrast rated 9/9 (usually appropriate) by ACR Appropriateness Criteria for facial nerve disorders 2

Essential Clinical Red Flags

Rapid acceleration of growth rate is the most critical warning sign distinguishing malignancy from benign developmental asymmetry 1

• Development of proptosis, ptosis, or vision changes suggests orbital involvement by rhabdomyosarcoma or neuroblastoma 1
• Pain in the affected area, skin fixation, or overlying erythema indicates aggressive soft tissue involvement 1
• Periorbital ecchymosis, systemic symptoms, or palpable masses suggest metastatic neuroblastoma 1

Critical Pitfalls to Avoid

The American Academy of Pediatrics warns against dismissing progressive asymmetry as "normal growth variation" without imaging, even with slow progression 1

• Do not assume benign etiology based solely on slow progression over one year, as some malignancies can present insidiously 1
• Do not delay imaging if any neurological signs are present, as facial asymmetry may be the first sign of an intracranial process requiring urgent attention 5, 2
• Distinguish between true anatomical asymmetry and functional asymmetry from compensatory posturing due to strabismus 5, 2

Urgent Specialty Referrals

Immediate pediatric neurology referral for evaluation of possible intracranial or neurological causes is essential 5

• Immediate pediatric ophthalmology referral for comprehensive eye examination to rule out strabismus with compensatory head posture 5
• Genetics consultation if syndromic features are present to evaluate for cancer predisposition syndromes 1