Heterozygous PDGFRB Mutation in a Three-generation Family with Autosomal Dominant Infantile Myofibromatosis.

1https://www.medicaljournals.se/acta/content/abstract/10.2340/00015555-2671 Infantile myofibromatosis (IM; MIM#228550) is a rare disorder of myofibroblastic proliferation and is one of the most common causes of benign fibrous tumour of infancy (1). IM is categorized into solitary, multicentric and generalized forms, with solitary IM being the most common. While solitary IM is characterized by the presence of a single cutaneous nodule, multicentric IM involves the skin, subcutaneous tissues, muscles and bones. Both forms of IM regress spontaneously during childhood. Generalized IM is characterized by visceral involvement, and may have a poor outcome. Although IM is mainly sporadic, 30 families suggestive of autosomal dominant (AD) or autosomal recessive (AR) inheritance have been reported. Recently, heterozygous mutations in PDGFRB and NOTCH3 have been reported in 13 families with AD IM (2, 3). We report here, a 3-generation family with multicentric AD IM and a novel PDGFRB mutation (c.1679C>T; p.P560L).