Abstract

Background: Infantile myofibromatosis (IM) is a soft tissue disease with solitary or multiple benign tumors, and an etiology still unknown. IM is a mesenchymal disorder of early infancy and is more frequent in males. IM may present as a solitary lesion of the skin, bone, muscle, subcutaneous tissue, located at the head, neck, and trunk, with good prognosis; or, as a multicentric form, with or without visceral involvement (heart, lung, gastrointestinal tract, kidney), with a poor prognosis. The definitive diagnosis of IM is confirmed by pathology. Treatment may be conservative, surgical, or chemotherapeutical. Case presentation: A two months old female patient, prenatally diagnosed at 30 weeks, presenting with a tumor on the antero-internal aspect of the left thigh. She was admitted due to rapid postnatal evolution, and the patient required surgery for tumor resection. Previously, clinically, biological and imaging investigations were performed, but the final diagnosis was histological and by immunostaining. The patient had a favorable postoperative outcome. Conclusions: Despite its low frequency, IM should be considered in the differential diagnosis of soft tissue masses at an early age. The clinical form (solitary or multicentric), location, and visceral involvement will dictate the treatment and prognosis.

Highlights

  • Published: 18 December 2021Infantile myofibromatosis (IM) manifests as a single or multicentric lesion of benign nature [1]

  • This article describes a case of a 2 months old girl who was detected with a left thigh mass on the prenatal ultrasound at 30 weeks of gestation; she was presented for consultation due to the presence and rapid growth of the tumor

  • Publisher’s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations

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Summary

Introduction

Infantile myofibromatosis (IM) manifests as a single or multicentric lesion of benign nature [1]. The incidence of the disease is low, it is considered the most common type of mesenchymal tumor during infancy and early childhood, with an unknown etiology [2]. Sporadic presentation is more common in children < 2 years. This article describes a case of a 2 months old girl who was detected with a left thigh mass on the prenatal ultrasound at 30 weeks of gestation; she was presented for consultation due to the presence and rapid growth of the tumor. The aim of this article is to present the clinical case, its management and to review the literature on this disease. Publisher’s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations

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