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.
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http://dx.doi.org/10.1155/2019/3476508 | DOI Listing |
Genet Med
November 2024
De Duve Institute, University of Louvain, Brussels, Belgium. Electronic address:
Purpose: Infantile myofibromatosis is characterized by the development of myofibroblastic tumors in young children. In most cases, the disease is caused by somatic gain-of-function variants in platelet-derived growth factor (PDGF) receptor beta (PDGFRB). Here, we reported a novel germline intronic PDGFRB variant, c.
View Article and Find Full Text PDFChildren (Basel)
September 2024
Paediatric and Neonatologic Unit, Santo Stefano Hospital, 59100 Prato, Italy.
Isolated musculoskeletal infantile myofibroma is a rare tumor of pediatric age. The majority of cases are seen in children under two years old, but it can occur at any age as a painless enlarging mass that involves bone, skin, or soft tissue, typically accompanied by compression symptoms. Perineural involvement is extremely rare in myofibromas.
View Article and Find Full Text PDFInt J Surg Case Rep
June 2024
Pediatric Surgery Section, Aleppo University Hospital, Aleppo, Syria; Dean of Faculty of Medicine, Aleppo University, Aleppo, Syria. Electronic address:
Introduction: A solitary infantile myofibroma tumor arises as a hard, painless cutaneous or subcutaneous nodule and is defined as an uncommon soft tissue neoplasm that is usually seen in childhood.
Case Presentation: A nine-month-old female infant presented with a solid mass that appeared one month ago. The mass gradually increased in size within the right posterior triangle of the neck, without any local or systemic accompanying symptoms.
Pediatr Dermatol
May 2024
Pediatric Dermatology, Henry Ford Hospital, Detroit, Michigan, USA.
The authors present a case of a proliferative nodule located beneath an infant's lower lip that was initially discovered on prenatal ultrasound and fetal magnetic resonance imaging (MRI). Biopsy revealed a smooth muscle actin-positive spindled cell proliferation with hemangiopericytoma-like vessels consistent with infantile myofibromatosis (IM). Since the location prevented surgical management, the clinicians opted to observe the lesion.
View Article and Find Full Text PDFOphthalmol Sci
December 2023
Department of Ophthalmology, University of Cologne, Cologne, Germany.
Purpose: To investigate the genetic cause, clinical characteristics, and potential therapeutic targets of infantile corneal myofibromatosis.
Design: Case series with genetic and functional analyses.
Participants: Four individuals from 2 unrelated families with clinical signs of corneal myofibromatosis were investigated.
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