Infantile myofibromatosis: multiple firm nodules in a premature newborn

Mindy D Szeto1, Mayra Bc Maymone, Lori S Kim

  • 1Department of Dermatology, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.

Insights

Infantile myofibromatosis, a rare tumor in newborns, presents as firm nodules. Early diagnosis via imaging and biopsy is crucial for managing this condition.

Area of Science:

  • Pediatric Pathology
  • Dermatology
  • Oncology

Background:

  • Infantile myofibromatosis is a rare benign tumor of infancy.
  • It is characterized by the proliferation of myofibroblasts.
  • These tumors commonly present as cutaneous or subcutaneous nodules.

Observation:

  • A premature male infant presented with multiple subcutaneous nodules at birth.
  • Nodules were firm, skin-colored, and measured 1-2 cm.
  • Diagnosis was confirmed by MRI and excisional biopsy.

Findings:

  • Infantile myofibromatosis exhibits a highly heterogeneous presentation and clinical course.
  • Histopathology and genetic testing aid in diagnosis.
  • Management approaches vary based on presentation.

Implications:

  • This case highlights the importance of recognizing infantile myofibromatosis.
  • Comprehensive diagnostic tools are essential for accurate assessment.
  • Understanding the diverse clinical spectrum guides effective management strategies.

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