Giant elephantiasis neuromatosa in the setting of neurofibromatosis type 1: A case report.
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.
Department of Surgical, Medical, Dental and Morphological Sciences with interest in Transplant, Oncological and Regenerative Medicine, University of Modena and Reggio Emilia, I-41124 Modena, Italy.
Giovanni
G
Ponti
Department of Surgical, Medical, Dental and Morphological Sciences with interest in Transplant, Oncological and Regenerative Medicine, University of Modena and Reggio Emilia, I-41124 Modena, Italy.
Giovanni
G
Pellacani
Department of Genetics, University of Parma, I-43125 Parma, Italy.
Davide
D
Martorana
Department of Surgical, Medical, Dental and Morphological Sciences with interest in Transplant, Oncological and Regenerative Medicine, University of Modena and Reggio Emilia, I-41124 Modena, Italy.
Victor Desmond
VD
Mandel
Department of Plastic Surgery, University of Modena, I-41124 Modena, Italy.
Pietro
P
Loschi
Department of Neurosciences, University of Padua, I-43125 Padua, Italy.
Annamaria
A
Pollio
Department of Radiology, University of Modena and Reggio Emilia, I-41100 Modena, Italy.
Annarita
A
Pecchi
Department of Medical Oncology, Bolzano Hospital, I-39100 Bolzano, Italy.
Cristina
C
Dealis
Department of Surgical, Medical, Dental and Morphological Sciences with interest in Transplant, Oncological and Regenerative Medicine, University of Modena and Reggio Emilia, I-41124 Modena, Italy.
Stefania
S
Seidenari
Department of Diagnostic and Clinical Medicine and Public Health, University of Modena and Reggio Emilia, I-41100 Modena, Italy.
Aldo
A
Tomasi
elephantiasis neuromatosa; mixoglioma gelatiniforme; neurofibromatosis type 1; plexiform neurofibroma; primary lymphatic drainage