Abstract
Diffuse neurofibroma is a rarely encountered subtype of neurofibroma but the most common to be misdiagnosed. Its imaging appearance is very similar to that of a vascular malformation, and it is often labelled one until a biopsy proves it to be otherwise. The infrequency of its association with neurofibromatosis makes it a rare and difficult diagnosis. Here, we report the case of a 16-year-old girl who presented with the complaint of a gradually progressive swelling around the right ankle and heel, which was initially diagnosed as a case of a vascular malformation. However, it subsequently turned out to be a diffuse neurofibroma.
Sommario
Il neurofibroma diffuso è una rara variante di neurofibroma, ma anche quella più facilmente non riconosciuta. L’aspetto all’imaging può simulare quello di una malformazione vascolare e spesso viene così etichettato finchè una biopsia non dimostri essere altro. E’ la difficoltà ad associare tale aspetto con l’imaging che rende il neurofibroma raro e di difficile diagnosi. Viene qui riferito il caso di una ragazza di 16 anni che si è presentata lamentando una tumefazione gradualmente progressiva attorno alla caviglia e al tallone destri inizialmente diagnosticata come una malformazione vascolare, ma successivamente correttamente identificata come un neurofibroma diffuso.
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Siddiqui, S., Khan, Z.A., Wahab, S. et al. A rare case of diffuse neurofibroma masquerading as a hemangioma: a radiological perspective. J Ultrasound 20, 343–346 (2017). https://doi.org/10.1007/s40477-017-0268-z
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DOI: https://doi.org/10.1007/s40477-017-0268-z