A Rapidly Enlarging Solitary Infantile Myofibroma

Infantile myofibromatosis is a rare disorder of mesenchymal cell proliferation that can affect the skin, bone, muscle, and viscera. We present a case of a 6-week-old male with a rapidly enlarging congenital solitary infantile myofibroma. The differential for congenital tumors of the head and neck is broad, and thorough evaluation is required to rule out life-threatening malignancy. Currently, there is no first-line imaging modality of choice to assess for skeletal and/or visceral involvement in patients with infantile myofibromatosis. We recommend the use of whole-body magnetic resonance imaging (MRI), as it quickly provides detailed information regarding extent of disease and does not expose the patient to the harmful effects of radiation.

Infantile Myofibroma Presenting as a Large Ulcerative Nodule in a Newborn

The differential diagnosis of a congenital cutaneous vascular-appearing mass in a newborn is broad and includes both benign and malignant tumors. We report the case of a newborn who presented with an erythematous exophytic skin nodule on the right upper leg. Excision was performed due to ulceration, concern for bleeding, and for diagnosis. Pathology revealed the mass to be an infantile myofibroma. This case highlights the importance of considering a broad differential diagnosis in a newborn with a cutaneous mass. While history, physical exam, and imaging can help diagnose some cases, a biopsy or excision is often needed to distinguish benign lesions from more concerning lesions.

Infantile Myofibromatosis With Intracranial Extradural Involvement and PDGFRB Mutation: A Case Report and Review of the Literature

Infantile myofibroma is a rare benign mesenchymal tumor that presents as solitary or multiple lesions (myofibromatosis) in the skin, soft tissue, bone, or internal organs. It most commonly affects the head and neck of infants and young children, but it can also affect adults. Intracranial involvement is reported to be extremely rare, and its clinical picture has been poorly characterized. Recently, it has been demonstrated that germline and somatic mutations in the platelet-derived growth factor receptor beta (PDGFRB) are associated with familial infantile myofibromatosis. We report a case of infantile myofibromatosis with predominant posterior fossa extradural involvement in a 14-year-old adolescent girl with a confirmed mutation in the PDGFRB gene.