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Published on: April 3, 2021
Infantile myofibromatosis
Milan Gopal1, Gurdip Chahal, Ziad Al-Rifai
1Department of Paediatric Surgery, University Hospitals of Leicester NHS Trust, Leicester, UK. milanmail@yahoo.com
Insights
Infantile myofibromatosis, a rare fibrous tumor in infants, presents diagnostic challenges. This study reviews 12 cases, highlighting diverse presentations like retroperitoneal masses and scrotal masses.
Area of Science:
- Pediatric Oncology
- Dermatopathology
- Surgical Pathology
Background:
- Infantile myofibromatosis is the most common fibrous tumor in infants.
- Despite its prevalence, it remains a rare condition, often leading to diagnostic uncertainty among clinicians.
Observation:
- The study analyzed 12 cases of infantile myofibromatosis over 14 years.
- Three distinct cases were highlighted: a typical presentation, a retroperitoneal myofibroma causing duodenal obstruction, and an isolated scrotal mass.
Findings:
- Case presentations demonstrate the varied clinical manifestations of infantile myofibromatosis.
- The retroperitoneal case underscores potential for significant internal complications.
- The scrotal mass case illustrates unusual localized presentations.
Implications:
- Increased awareness of infantile myofibromatosis and its diverse presentations is crucial for timely diagnosis.
- Recognizing atypical sites and symptoms aids in differentiating from other pediatric tumors.
- Further research into the pathogenesis and optimal management strategies is warranted.
Abstract:
Despite being the most common fibrous tumour of infancy, infantile myofibromatosis is still sufficiently rare for the diagnosis not to be apparent to many clinicians. We present the data from the 12 cases seen in our institute over the last 14 years and highlight three cases, the first a "typical" case, then a retroperitoneal myofibroma that presented with duodenal obstruction and finally one that presented as an isolated scrotal mass. We have also reviewed the literature on the subject.
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