Association of PDGFRB Mutations With Pediatric Myofibroma and Myofibromatosis.
Sign Up to like & getrecommendations! Published in 2019 at "JAMA dermatology"
DOI: 10.1001/jamadermatol.2019.0114
Abstract: Importance Myofibroma is the most frequent fibrous tumor in children. Multicentric myofibroma (referred to as infantile myofibromatosis) is a life-threatening disease. Objective To determine the frequency, spectrum, and clinical implications of mutations in the PDGFRB… read more here.
Keywords: myofibromatosis; pdgfrb mutations; gain function; myofibroma myofibromatosis ... See more keywords
Spinal Canal Involvement in Solitary Infantile Myofibromatosis: Case Report
Sign Up to like & getrecommendations! Published in 2017 at "International Journal of Neural Systems"
DOI: 10.1055/s-0036-1596041
Abstract: Infantile myofibromatosis involving the spinal canal is very rare; only 11 cases have been reported so far in the literature. The authors present a case of an 18-month-old male child who presented with the history… read more here.
Keywords: infantile myofibromatosis; spinal canal; case; report ... See more keywords
A Rare Case of Infantile Myofibromatosis Presenting to the Emergency Department as Undiagnosed Long Bone Fractures
Sign Up to like & getrecommendations! Published in 2017 at "Pediatric Emergency Care"
DOI: 10.1097/pec.0000000000001325
Abstract: AbstractInfantile myofibromatosis is a disorder of mesenchymal tumors that usually presents within the first 2 years of life. Most patients initially present because of the presence of visible or palpable subcutaneous tumors. We report a… read more here.
Keywords: infantile myofibromatosis; emergency department; emergency; myofibromatosis presenting ... See more keywords
Development and validation of targeted treatments for the rare tumor syndrome infantile myofibromatosis.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2020.38.15_suppl.e22519
Abstract: e22519Background: Infantile myofibromatosis (IMF; MIM 228550) is an autosomal dominant disorder characterized by fibroblastic tumors of skin, muscles, viscera and bones. Tumor growth may begin duri... read more here.
Keywords: validation targeted; development validation; infantile myofibromatosis; treatments rare ... See more keywords