UNASSIGNED: Neurofibromatosis type 1 is a benign peripheral nerve tumor, often manifests as plexiform neurofibroma that may cause severe dysfunction, pain, and disfigurement. Bleeding has been reported as a complication of plexiform neurofibroma due to vascular fragility and vasculopathy that may develop into life-threatening bleeding especially after excision procedure. Consequently, post excision complications also include dehiscence and infection.
METHODS: We report a 23-year-old male with elephantiasis of the left lower extremity due to giant plexiform neurofibroma who underwent preoperative embolization followed by serial surgical mass reduction. There were postoperative complications consisting of hematoma, wound dehiscence, and infection.
UNASSIGNED: Negative pressure wound therapy is often used to accelerate wound healing, including infected wounds. However, negative pressure wound therapy has been a debatable modality for wound care of neurofibroma due to reported risks of profuse bleeding during its use.
CONCLUSIONS: In this case, despite the size, negative-pressure wound therapy has shown good results for infected neurofibroma wounds and as an adjunct as wound dressing for defect closure of neurofibroma with split-thickness skin graft.

Elephantiasis neuromatosa (EN) is a rare and extreme form of plexiform neurofibroma in patients with neurofibromatosis type 1 (NF1). EN is often associated with significant morbidity and remains difficult to treat. We present a case of an 11-year-old female with NF1 whose thoracolumbar plexiform neurofibroma and lower extremity EN exhibited clinical improvement from treatment with selumetinib, a selective MEK inhibitor.

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.

OBJECTIVE: Von Recklinghausen disease is a syndrome characterized by a wide phenotypic variability giving rise to both, cutaneous and visceral benign and malignant neoplasms. The first include cutaneous neurofibromas, subcutaneous and plexiform neurofibromas. The latter can undergo malignant transformation and/or determine elephantiasis neuromatosa. Visceral tumors may include malignant peripheral nerve sheet tumors, gastrointestinal stromal tumors, cerebral gliomas and abdominal neurofibromas. In the present study, the authors discuss the clinical and biomolecular characterization of a cohort of 20 families with a diagnosis of type 1 neurofibromatosis.
METHODS: Clinically, the cohort includes three probands with elephantiasis neuromatosa and a peculiarly high incidence of breast and gastrointestinal cancer.
RESULTS: Among the 14 NF1 mutations documented, 10 encoding for a truncated protein have been associated to particularly aggressive clinical phenotypes including elephantiasis neuromatosa, malignant peripheral nerve sheet tumors, breast cancer, gastrointestinal stromal tumors.
CONCLUSIONS: This effect on protein synthesis, rather than the type of NF1 mutation, is the key to the explanation of the genotype-phenotype correlations in the context of neurofibromatosis type 1.

Elephantiasis neuromatosa is the most impressive manifestation of neurofibromatosis type-1 (NF-1). We report a case of NF-1 who presented with elephantiasis neuromatosa of his right leg. Cross-sectional imaging not only assists in the correct diagnosis but also aids in imaging the vasculature of a plexiform neurofibroma, which is essential for proper surgical planning.