Sporadic unifocal infantile myofibromatosis involving the skull. Case report

Area of Science:

• Pediatric Oncology
• Skeletal Dysplasias
• Dermatopathology

Background:

• Infantile myofibromatosis (IM) is a rare benign soft tissue tumor. Skull involvement in IM can present as solitary or multifocal lesions.
• Solitary skull lesions in IM are generally associated with a favorable prognosis.
• Multifocal IM, particularly with visceral involvement (heart, lungs, gastrointestinal tract), can be life-threatening in infants.

Observation:

• A case report of a 3-year-old boy with a progressively enlarging left parietal skull lesion since infancy is presented.
• The lesion was surgically resected via craniectomy for diagnosis and symptom relief.
• Post-surgical evaluation confirmed a solitary lesion without evidence of systemic involvement.

Findings:

• The presented case highlights a solitary skull lesion of infantile myofibromatosis in a young child.
• Histopathological examination confirmed the diagnosis, and further staging revealed no extracranial or visceral metastases.
• This case underscores the variable presentation and potential for benign outcomes even with skull involvement.

Implications:

• The findings suggest that while multifocal IM with visceral involvement is dangerous, solitary skull lesions may follow a benign course.
• Early staging, especially in patients under two years of age, is recommended to rule out critical cardiac, pulmonary, or gastrointestinal involvement.
• This case contributes to the understanding of infantile myofibromatosis and emphasizes the importance of thorough evaluation for optimal patient management.