Infantile myofibromatosis: a rare presentation with intussusception

Area of Science:

• Pediatric Pathology
• Oncology
• Gastroenterology

Background:

• Infantile myofibromatosis (IM) is a rare benign soft-tissue tumor in infants.
• It is characterized by undifferentiated myofibroblasts and typically has a favorable prognosis.
• Accurate diagnosis is crucial to differentiate it from malignant neoplasms.

Observation:

• This report details the first documented case of infantile myofibromatosis presenting with acute intussusception.
• The infant exhibited both gastrointestinal involvement and typical cutaneous lesions.
• This dual presentation is unusual for infantile myofibromatosis.

Findings:

• The study describes a unique presentation of infantile myofibromatosis.
• The findings emphasize the gastrointestinal manifestation of IM, specifically acute intussusception.
• The case underscores the importance of considering IM in infants with unexplained intussusception and skin findings.

Implications:

• This case expands the known clinical spectrum of infantile myofibromatosis.
• It suggests that gastrointestinal involvement, including intussusception, should be considered in the differential diagnosis of IM.
• Early recognition of this rare tumor can prevent misdiagnosis and guide appropriate management.