Giant elephantiasis neuromatosa in the setting of neurofibromatosis type 1: A case report

  • Authors:
    • Giovanni Ponti
    • Giovanni Pellacani
    • Davide Martorana
    • Victor Desmond Mandel
    • Pietro Loschi
    • Annamaria Pollio
    • Annarita Pecchi
    • Cristina Dealis
    • Stefania Seidenari
    • Aldo Tomasi
  • View Affiliations

  • Published online on: April 19, 2016     https://doi.org/10.3892/ol.2016.4469
  • Pages: 3709-3714
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Abstract

Elephantiasis neuromatosa (EN) can arise from a plexiform neurofibroma of the superficial and deep nerves developing from a hyperproliferation of the perineural connective tissue infiltrating adjacent fat and muscles. To date, the clinical association between EN and neurofibromatosis type 1 (NF1) has been poorly defined, particularly with regard to the role of lymphatic alterations and the consequent lymphedema. The present study reports the clinical and biomolecular features of EN in a NF1 patient with the clear clinical diagnostic criteria of multiple cafè‑au‑lait macules, neurofibromas, EN, a positive family history and a novel NF1 germline c.1541_1542del mutation. Lymphoscintigraphy (LS) highlighted marked dermal backflow in the affected limb, hypertrophy of the ipsilateral inguinal and external iliac lymph nodes, and a bilateral lower limb lymph flow delay. These data support the hypothesis that an extensive hyperproliferative process involving perineural connective, limb soft tissues, bones and the lymphatic system can be responsible for EN in NF1 patients, on the basis of adipocyte metaplasia triggered by lymphostasis and lymphedema, and bone overgrowth and gigantism caused by chronic hyperemia. LS and magnetic resonance imaging can be efficacious tools in the diagnosis and clinical characterization of the early onset of the disease.
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June-2016
Volume 11 Issue 6

Print ISSN: 1792-1074
Online ISSN:1792-1082

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Spandidos Publications style
Ponti G, Pellacani G, Martorana D, Mandel VD, Loschi P, Pollio A, Pecchi A, Dealis C, Seidenari S, Tomasi A, Tomasi A, et al: Giant elephantiasis neuromatosa in the setting of neurofibromatosis type 1: A case report. Oncol Lett 11: 3709-3714, 2016.
APA
Ponti, G., Pellacani, G., Martorana, D., Mandel, V.D., Loschi, P., Pollio, A. ... Tomasi, A. (2016). Giant elephantiasis neuromatosa in the setting of neurofibromatosis type 1: A case report. Oncology Letters, 11, 3709-3714. https://doi.org/10.3892/ol.2016.4469
MLA
Ponti, G., Pellacani, G., Martorana, D., Mandel, V. D., Loschi, P., Pollio, A., Pecchi, A., Dealis, C., Seidenari, S., Tomasi, A."Giant elephantiasis neuromatosa in the setting of neurofibromatosis type 1: A case report". Oncology Letters 11.6 (2016): 3709-3714.
Chicago
Ponti, G., Pellacani, G., Martorana, D., Mandel, V. D., Loschi, P., Pollio, A., Pecchi, A., Dealis, C., Seidenari, S., Tomasi, A."Giant elephantiasis neuromatosa in the setting of neurofibromatosis type 1: A case report". Oncology Letters 11, no. 6 (2016): 3709-3714. https://doi.org/10.3892/ol.2016.4469