Eur J Med Genet 2017 Jul 9;60(7):353-358. Epub 2017 Mar 9.
Hunter Genetics, Hunter New England Local Health District, PO Box 84, Waratah, NSW, Australia 2298. Electronic address:
Infantile myofibromatosis is characterized by benign myofibroblastic tumors within skin, muscle, bone or viscera which have a characteristic staining pattern on immunohistochemistry. The condition typically presents in infancy and the tumors often disappear by the third year of life. Mutations in the PDGFRB gene and NOTCH3 genes have been identified in familial forms of the condition. We present two families with molecularly confirmed germline mutations in the PDGFRB gene, one demonstrating a phenotype ranging from complete non-penetrance to neonatal lethality; and the other illustrating adult recurrence of the tumors.