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Case Report
An unusual plexiform neurofibroma confused with a vascular malformation: A case report
1 Division of Pediatric and Adolescent Surgery, Department of Surgical Pathology, Medical, Molecular and Critic Area, University of Pisa, Pisa, Italy
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Claudio Spinelli
M.D.,
Full Professor of Pediatric Surgery, Chief: Division of Pediatric and Adolescent Surgery, Department of Surgical Pathology, Medical, Molecular and Critic Area. University of Pisa, Via Paradisea 2, 56124 Pisa,
Italy
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Article ID: 101028Z01CS2019
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Spinelli C, Elia G, Bertocchini A, Calani C, Leoni M, Strambi S. An unusual plexiform neurofibroma confused with a vascular malformation: A case report. Int J Case Rep Images 2019;10:101024Z01CS2019.ABSTRACT
Introduction: Neurofibromatosis type I, or Von Recklinghausen disease, is a multisystem disorder that primarily involves the skin and nervous system. Plexiform neurofibromas are one of the most pathognomonic and often the most disabling feature of the disease; generally benign, these lesions might degenerate into neurofibrosarcoma. They grow along peripheral nerves, and can be divided, on histological and biological bases, into two different groups: nodular / mass neurofibromas and Plexiform neurofibromas (superficial and deep). Despite the unique appearance of deep plexiform neurofibroma, especially on T2-weghted MRI, cutaneous and subcutaneous forms are more difficult to diagnose. The imaging findings of the superficial forms are different from the imaging characteristics of the deeper lesions and can be confused with a low-flow vascular malformation.
Case Report: We report a 2-year-old boy, with diagnosis of neurofibromatosis type I, who came to our attention with a palpable swelling on the left nuchal region exhibiting ultrasonographical characteristics of a venolymphatic malformation. This lesion was histologically reported to be a superficial plexiform neurofibroma.
Conclusion: A superficial plexiform neurofibroma may present imaging features of a vascular malformation. For this reason, the absence of the classical ultrasonographical appearance do not exclude a diagnosis of neurofibroma, expecially in superficial location.
Keywords: Hemangioma, Neurofibromatosis type I, Plexiform neurofibroma, Peripheral nerve neoplasia, Schwann cells
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Author Contributions
Claudio Spinelli - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Gianmarco Elia - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Alessia Bertocchini - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Chiara Calani - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Matteo Leoni - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Silvia Strambi - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Guaranter of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementAfter the Institutional Review Board approval, written informed consent was obtained from the parents for publication of this case report and accompanying images.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2019 Claudio Spinelli et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
