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Neurofibromatosis type 1 - multiple neurofibromas

Case contributed by Abraão Kupske
Diagnosis certain

Presentation

Performed routine consultation with some nodules distributed in the body, the largest ones on the lower limbs. Asked MRI for diagnosis.

Patient Data

Age: 30 years
Gender: Female

Lesions with expansive characteristics on the left popliteal fossa, with lobed appearance and relatively preserved contours, measuring 8 cm in larger diameter and several other smaller lesions with an average size of 3 cm. Most lesions are observed along the paths of the tibial-fibular nerve bundles. Edema at connective tissue and adjacent muscles, greatly in the lateral gastrocnemius.
There is no evidence of bone injury.

Case Discussion

Biopsy of the largest lesion demonstrated neurofibroma. No surgery was performed. The patient kept following her underlying pathology (NF1).

Neurofibromas are benign nerve sheath tumors of the peripheral nervous system. They affect a single peripheral nerve or multiple nerve bundles (plexiform neurofibromas). These tumors remain benign throughout life and do not become malignant cancers.

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