A 31-year-old woman with a palpable knee mass reports a 2-year history of progressive limitation in knee flexion. This mass is present since infancy but has progressively developed in the preceding 2 years. She denies a history of trauma.
The neurologic exam was normal, without sensory deficits.
In the plain radiograph, a soft tissue opacity in the posterior knee was identified. (Fig. 1)
Ultrasonography (high-frequency linear array 6-15 Mhz) revealed a well-defined, oval, echo-poor mass, mixed but predominantly solid, with enhanced through transmission.
There were no signs of vascularization in colour Doppler (Fig.2).
Magnetic resonance imaging (MRI) depicted a well-defined extra-articular lesion.
It was limited anteriorly by sartorius and gracilis tendons and posteriorly by semimembranosus and semitendinosus tendons.
The lesion depicted homogeneous hypointensity in T1-weighted intense (WI), heterogeneous and hyperintense signal in Proton-Density Fat-saturated (DP-FS) image (Fig 3.), with heterogeneous enhancement after contrast, mainly in the central part. (Fig. 4) There was no perilesional oedema. The fat plane around the lesion was preserved.
The lesion was surgically excised and the patient stated complete resolution of symptoms.
The pathological exam was compatible with neurofibroma, as it marked positive for CD 34.
Neurofibromas are peripheral nerve sheath tumours (PNSTs) related to Schwann cell’s proliferation. [1] Classically divided into 3 categories: solitary, diffuse, and plexiform. Diffuse neurofibromas and plexiform neurofibromas are closely associated with neurofibromatosis. Sporadic and diffuse neurofibromas only rarely progress to malignancy. [2] The vast majority of neurofibromas (>90%) are solitary.
Ultrasound is now considered the first-choice modality concerning the evaluation of nerves. [3]
However, the deep location of this lesion may be a limitation to ultrasound imaging.
MRI can accurately localize and determine the extent of the lesion. Several MRI findings were described as useful in the diagnosis of PNSTs, including the split fat sign, fascicular pattern, target sign, thin hyperintense rim, and identification of entering and exiting nerve. [4] Localized neurofibroma lesions usually show nonspecific signal intensity and variable contrast enhancement. [4] The classic target sign appearance was not present in our cause, which is characterized on T2-WI by peripheral high-signal-intensity due to myxoid material and a relatively low-signal-intensity fibrous component centrally. [6]
Localized neurofibromas often affect superficial cutaneous nerves, although involvement of larger nerves also occurs. [7]
Demonstration of the nerve in contiguity with mass, with variable tubular or fusiform enlargement, is the key diagnostic feature and confirms the neural origin, but it was not evident in our case, even at MRI.
As opposed to schwannomas, most neurofibromas are solid tumours macroscopically; areas of cystic degeneration, hypocellularity and xanthomatous material are uncommon. [8]
MRI is useful for the differentiation of neurofibromas and schwannomas. However, no single or combination of findings allows a definitive differentiation between schwannoma and neurofibroma. [9]
Recently, Snoj et al. suggested that high-field-strength MR microscopy allows a better differentiation of fascicles anatomy than high-frequency US.[10] This will potentially increase the confidence in suggesting a neurogenic origin in the future. The diagnostic value of ultrasound elastography is still debatable in literature. [3, 11]
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Solitary neurofibroma
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1. X-ray (lateral view of the knee joint): The bony structure and articular surfaces of the knee joint appear largely normal, with no obvious bony destruction or fracture lines. The patella is in a normal position. Soft tissue swelling is observed in the posterior aspect of the knee joint, but no obvious erosion or abnormal changes of the bony structures are seen.
2. Ultrasound: In the posterior aspect of the knee joint (possibly in the popliteal fossa or within the deep soft tissue), there is an oval-shaped soft tissue mass with fairly well-defined borders. The internal echo is predominantly hypoechoic, and the capsule is not clearly delineated. The course of deep nerves is not clearly visualized.
3. MRI: In the deep soft tissue of the posterior knee, there is a round or oval soft tissue lesion with relatively clear margins. On T1-weighted images, it appears isointense or slightly hypointense, while on T2 or PD-weighted images it appears hyperintense. Post-contrast imaging shows varying degrees of enhancement. No obvious abnormal signal erosion into or around bone is observed, nor any significant bony destruction. The lesion shows relatively homogeneous or slightly heterogeneous enhancement; no clear imaging of any nerve bundles entering or exiting the lesion is seen.
Taking into account the patient’s history of having this mass since childhood, its gradual enlargement over the past two years, and resulting limitation in knee flexion, along with MRI findings of a relatively well-defined boundary and some degree of enhancement—but without definitive evidence of nerve “extension” into or out of the lesion—there is a strong suspicion of a “solitary neurofibroma.” Typically, this is a benign peripheral nerve sheath tumor with a slow growth pattern. There is no clinical evidence supporting neurofibromatosis (NF), which further supports the likelihood of a solitary lesion.
During rehabilitation, avoid excessive stretching or manipulation of the affected area to prevent nerve irritation or microtrauma. In the postoperative phase, once the surgical incision is healed and upon medical clearance, gentle joint movement exercises and a tailored physical therapy program should commence.
The above report is based on the available imaging and clinical history for reference, and does not replace an in-person diagnosis or professional physician’s clinical opinion. In case of any questions or changes in condition, seek medical attention promptly and follow up with specialized examinations and recommendations from clinical experts.
Solitary neurofibroma