Figure 1.
Clinical and radiologic features of patients with CSF1R mutations. (A) Ultrasound and clinical images of the lesion of case 1. This infant was noted to have a small red/purple lesion on the chest at birth. The lesion increased in size over time and developed a central crust. Ultrasound revealed a well-demarcated, homogeneous, hypoechoic lesion with rich vascularization. A biopsy was taken 7 weeks after birth, leading to a diagnosis of JXG. The lesion continued to grow rapidly, with recurrent ulceration and occasional bleeding, before it was resected at 10 weeks after diagnosis. A small recurrence was observed in the scar at 6 months after surgery; this lesion was left untreated and slowly regressed over the following 2 years. (B) Clinical images of the multifocal lesions in case 3. Both lesions were present at birth and progressed over time. A biopsy was taken of the right upper leg lesion 8 weeks after birth and revealed JXG. In the following weeks, the right sided neck lesion grew significantly, and the infant developed a head turning preference for the left side. Therefore, it was decided to resect the neck tumor. The right upper leg lesion continued to grow for several months but eventually regressed spontaneously. (C) Radiologic and clinical images of the tumor in case 5. This infant was noted to have 2 small lesions on the proximal right lower arm at birth. In the following months, a large tumor developed in the lower arm, with a remarkable nodular aspect. Conventional radiography demonstrated intact osseous structures. Magnetic resonance imaging (MRI) at 4 months after birth revealed a 2.8 × 1.6 × 4.2 cm large soft tissue tumor, extending inward between the flexor digitorum superficialis and profundus. A biopsy was taken, leading to a diagnosis of JXG. The patient was managed by active monitoring and experienced spontaneous regression of the tumor. T1, longitudinal relaxation time; T2, transverse relaxation time.

Clinical and radiologic features of patients with CSF1R mutations. (A) Ultrasound and clinical images of the lesion of case 1. This infant was noted to have a small red/purple lesion on the chest at birth. The lesion increased in size over time and developed a central crust. Ultrasound revealed a well-demarcated, homogeneous, hypoechoic lesion with rich vascularization. A biopsy was taken 7 weeks after birth, leading to a diagnosis of JXG. The lesion continued to grow rapidly, with recurrent ulceration and occasional bleeding, before it was resected at 10 weeks after diagnosis. A small recurrence was observed in the scar at 6 months after surgery; this lesion was left untreated and slowly regressed over the following 2 years. (B) Clinical images of the multifocal lesions in case 3. Both lesions were present at birth and progressed over time. A biopsy was taken of the right upper leg lesion 8 weeks after birth and revealed JXG. In the following weeks, the right sided neck lesion grew significantly, and the infant developed a head turning preference for the left side. Therefore, it was decided to resect the neck tumor. The right upper leg lesion continued to grow for several months but eventually regressed spontaneously. (C) Radiologic and clinical images of the tumor in case 5. This infant was noted to have 2 small lesions on the proximal right lower arm at birth. In the following months, a large tumor developed in the lower arm, with a remarkable nodular aspect. Conventional radiography demonstrated intact osseous structures. Magnetic resonance imaging (MRI) at 4 months after birth revealed a 2.8 × 1.6 × 4.2 cm large soft tissue tumor, extending inward between the flexor digitorum superficialis and profundus. A biopsy was taken, leading to a diagnosis of JXG. The patient was managed by active monitoring and experienced spontaneous regression of the tumor. T1, longitudinal relaxation time; T2, transverse relaxation time.

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