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

Giovanni Ponti, Giovanni Pellacani, Davide Martorana, Victor Desmond Mandel, Pietro Loschi, Annamaria Pollio, Annarita Pecchi, Cristina Dealis, Stefania Seidenari, Aldo Tomasi

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)3709-3714
Number of pages6
JournalOncology Letters
Volume11
Issue number6
DOIs
Publication statusPublished - Jun 1 2016

Keywords

  • Elephantiasis neuromatosa
  • Mixoglioma gelatiniforme
  • Neurofibromatosis type 1
  • Plexiform neurofibroma
  • Primary lymphatic drainage

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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