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Infantile myofibromatosis: a cause of severe bone pain in a neonate

E A Jenkins1, M I Cawley

  • 1Rheumatology Unit, Southampton University Hospitals, General Hospital.

British Journal of Rheumatology
|September 1, 1993
PubMed

Insights

Infantile myofibromatosis, a rare condition, can present with severe shoulder pain and lytic bone lesions in infants. This case highlights an unusual presentation, emphasizing the need for prompt diagnosis and management.

Area of Science:

  • Pediatric Orthopedics
  • Pediatric Radiology
  • Pediatric Pathology

Background:

  • Infantile myofibromatosis is a rare benign tumor of infancy.
  • It typically presents as multiple nodules in the skin, soft tissue, or bone.
  • Bone involvement is less common and often asymptomatic.

Observation:

  • A 3-week-old female infant presented with severe bilateral shoulder pain.
  • Radiological imaging revealed large, symmetrical, lytic lesions in the proximal humeri.
  • The clinical and radiological findings were suggestive of infantile myofibromatosis.

Findings:

  • Bone biopsy confirmed the diagnosis of infantile myofibromatosis.
  • This case represents an uncommon presentation of infantile myofibromatosis primarily confined to bone.
  • Severe pain, in the absence of pathological fracture, is an unusual symptom for this condition.

Implications:

  • This case expands the known clinical spectrum of infantile myofibromatosis.
  • It underscores the importance of considering infantile myofibromatosis in the differential diagnosis of pediatric bone lesions, even with severe pain.
  • Early diagnosis and management can lead to favorable outcomes, as demonstrated by the infant's complete recovery.

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