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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.
Abstract:
Infantile myofibromatosis is a rare myofibroblastic proliferative disorder characterized by firm, skin-colored to red-purple cutaneous and subcutaneous nodules; these are the most prevalent fibrous tumors observed in infancy. A premature male infant presented at birth with multiple subcutaneous firm skin-colored nodules measuring about 1-2cm each. Full body MRI and excisional biopsy of the right chest nodule confirmed the diagnosis. We review the case of infantile myofibromatosis and discuss its highly heterogeneous presentation and clinical course, as well as histopathology, genetic testing, and approaches to management.
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