Myofibroma (infant)

Case contributed by Jeremy Jones
Diagnosis almost certain

Presentation

Large mass lateral border of the left upper arm. Present since birth.

Patient Data

Age: 2 weeks
Gender: Female
ultrasound

Large rounded hypoechoic mass centered in the deltoid muscle. No internal hypervascularity. Single lesion.

mri

Awake MRI.

Confirms that the lesion is solitary, extraosseous and centered in the deltoid muscle. No surrounding edema.

US-guided biopsy

Biphasic appearance of hyalinised myoid nodules and spindle-cells.

SMA positive. Calponin focal staining. CD34 vascular channel staining.

Negative: myogenin, MyoD1, caldesmon, S100, STAT6, AE1/3.

Molecular testing (FISH) shows no USP6 gene rearrangement.

Histology and immunohistochemisty: myofibroma.

Case Discussion

This hard intramuscular lesion was present from birth.

Imaging findings are non-specific. Intramuscular. Generalized lack of vascularity. No surrounding edema.

Biopsy confirmed myofibroma. A decision about clinical review vs. excision is yet to be made.

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