Infantile myofibromatosis (IM) is a rare soft tissue tumor of infancy and childhood. We report the case of a newborn girl with an abdominal tumor discovered at 32 weeks of gestation by fetal ultrasound. She underwent a laparotomy for an unexplained abdominal mass 20 days after birth. The tumor originated from the spleen and was removed by splenectomy. There were no other abnormal findings on diagnostic modalities. Based on the histological examinations, the tumor was diagnosed as an IM. Although extremely rare during the neonatal period, solitary type IM should be considered as a differential diagnosis of the splenic tumor.
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http://dx.doi.org/10.1016/j.jpedsurg.2007.08.060 | 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 PDFAnn Thorac Med
October 2024
Department of Pulmonology, University Hospital Saint-Luc, Brussels, Belgium.
Adult recurrence of infantile myofibromatosis is exceptional. Here, we report the case of a 23-year-old woman with a late recurrence of infantile myofibromatosis revealed by spontaneous pneumothorax. The chest computed tomography scan found both cavitary and nodular bilateral pulmonary lesions.
View Article and Find Full Text PDFGlob Pediatr Health
August 2024
Hospital IBN SINA, Rabat, Morocco.
Infantile myofibromatosis is a proliferative disorder occurring during infancy and early childhood, marked by the development of nodular or diffuse lesions consisting of various mesenchymal elements. Intracranial involvement is infrequently reported. Here, we present the case of a 3-year-old girl exhibiting a rare manifestation of IM with intracranial parenchymal involvement, displaying a histological pattern documented in existing literature on patients with infantile myofibromatosis.
View Article and Find Full Text PDFJ Pediatr Hematol Oncol
October 2024
Oncology Unit, IRCCS Giannina Gaslini, Genoa.
Background: Infantile myofibromatosis (IM) is a rare disorder characterized by benign tumors in the skin, subcutaneous tissue, muscle, and occasionally viscera. IM can be hereditary due to PDGFRB or NOTCH3 variants. Treatment is mainly conservative or surgical.
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