Infantile myofibromatosis (IM) is a rare benign soft tissue tumor seen mainly in infants and toddlers. IM is the most common benign mesenchymal tumor observed in infancy, with an estimated incidence of 1/150,000 to 1/400,000 live births. The clinical spectrum ranges from solitary disease, which accounts for about half of all cases, to multiple and sometimes disseminated lesions that involve cutaneous, subcuta-(A) CT T1-FLAIR T1-FLAIR/FS +Gd X-ray T2-FLAIR DWI T1-FLAIR +Gd T2 MRI Pre-resection Tumor Post-resection (B) HE HE -SMA Ki67 (C) F I G U R E 1 Imaging studies, intraoperative findings, and histopathological analysis of solitary IM. (A) Anteroposterior plain radiograph and computed tomography (CT) images (axial slice and 3D volume rendering image) of the skull show a lytic lesion, measuring 2 cm, in the frontal bone. Axial magnetic resonance (MR) images of indicated sequences are shown. (B) Intraoperative pictures showing postscalp incision, the tumor, and postresection of the tumor. (C) Hematoxylin and eosin (H&E) staining (upper left and upper right panels) and immunohistochemical staining for α-smooth muscle actin (α-SMA) and Ki67 (lower left and lower right panels), respectively. FLAIR, fluid-attenuated inversion recovery; FS, fat-suppressed; Gd, gadolinium contrast; DWI, diffusion weighted imaging. neous, and visceral tissues. 1 The prognosis for solitary IM is generally good after surgical resection of the tumor; some cases regress spontaneously. However, multicentric disease involving visceral organs can be life-threatening, and patients may require systemic chemotherapy. 2,3 The World Health Organization (WHO) classification of soft tissue tumor categorizes IM to the family of benign pericytic/perivascular tumors. 4,5 Recent studies have investigated the genetic basis of IM. Gainof-function (GOF) variants of the PDGFRB gene have been found in IM tumor tissues. 6,7 A recent study of 69 patients with IM identified PDGFRB somatic variants in 68% of multicentric cases and 24% of solitary tumor cases. 6 Also, germline GOF variants in the PDGFRB gene have been reported in familial cases of IM. 8,9A 10-month-old male presented with a bump on his forehead. Physical examination revealed a palpable, firm, nonmobile, painless mass on
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