Elephantiasis neuromatosa of the lower limb in a patient with neurofibromatosis type-1: A case report with imaging findings

Bano, Shahina; Prasad, Akhila; Yadav, Sachchida Nand; Chaudhary, Vikas; Sachdeva, Namrata

doi:10.4103/1817-1745.66684

Cited by 7 publications

(4 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…162200), also known as von Recklinghausen disease, is clinically characterized by the presence of simple, diffuse and plexiform neurofibromas. Plexiform neurofibromas are unencapsulated, poorly-circumscribed tumors infiltrating the nerves and adjacent fat and muscles (1). The connective overgrowth can be limited to a single nerve or a plexus; in the latter case, when the plexus spreads to the epidermal and dermal tissues, it is termed molluscum fibrosum.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2016

View full text Add to dashboard Cite

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. IntroductionNeurofibromatosis type 1 (NF1) (MIM no. 162200), also known as von Recklinghausen disease, is clinically characterized by the presence of simple, diffuse and plexiform neurofibromas. Plexiform neurofibromas are unencapsulated, poorly-circumscribed tumors infiltrating the nerves and adjacent fat and muscles (1). The connective overgrowth can be limited to a single nerve or a plexus; in the latter case, when the plexus spreads to the epidermal and dermal tissues, it is termed molluscum fibrosum. This can occur multiple times, covering all body sites (including the forehead, temple, eyes, nape and upper lip) with the exception of the palms and soles (2). The plexiform neurofibroma variant, mixoglioma gelatiniforme, is usually soft and is located in the lower third of the leg, and when associated with lymphangiomatosis, it can give rise to elephantiasis neuromatosa (EN). EN is characterized by abnormal soft-tissue hypertrophy and bone dysplasia together with early and excessive bone growth of the affected leg compared with the contralateral leg (3,4). Pachidermocele or dermatholysis may be associated with NF1, showing an overlap of skin layers in the thorax, buttocks and roots of the limbs.The etiology of EN is not yet fully understood, but the association of primary lymphatic dysplasia with a lymphatic proliferative process has been proposed (5-7).The current study presents a case of NF1-associated EN with typical clinical manifestations. Written informed consent was obtained from the patient.

show abstract

Section: Introductionmentioning

confidence: 99%

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

et al. 2016

View full text Add to dashboard Cite

show abstract

“…It is associated with a mutation in the long arm of chromosome 17, which codes for the protein neurofibromin and is inherited in an autosomal dominant pattern, hence having a relatively common incidence of 1 in 3000 live births [ 1 ]. The syndrome is named after the characteristic benign “neurofibromas” [ 2 ], consisting of Schwann cells, fibroblasts, endothelial cells, mast cells, etc. [ 3 ].…”

Section: Discussionmentioning

confidence: 99%

“…Neurofibromas are classified based on their anatomical distribution into localized, plexiform, and diffuse types. Plexiform neurofibromas, found in one extremity only, are typical of the syndrome, seen in 26% of the NF-1 patients [ 2 ], and have a 2–5% chance of malignant transformation [ 4 ].…”

Section: Discussionmentioning

confidence: 99%

Tibial Dysplasia in Neurofibromatosis-1: A Rare Case Report and Review of Literature

Ambade,

Malik

2024

jocr

View full text Add to dashboard Cite

Background: Neurofibromatosis-1 (NF-1) is a neurocutaneous disorder, primarily affecting the skin and nervous system. Concomitant multi-system involvement is also seen. Orthopedic manifestations of NF-1 are one area that is understudied and underreported, highlighting the importance of this case report. Case Report: A 16-year-old male presented with painless swelling on the posteromedial aspect of the lower right tibia, which was confirmed to be a dysplastic mass on biopsy. Physical examination also revealed cafe au lait macules and axillary freckling, leading to a diagnosis of NF-1. Discussion: Bony lesions in NF-1 patients mainly include the spine and tibia. Congenital tibial dysplasia is commonly associated with NF-1 and may progress to pseudoarthrosis if early management is not started. Treatment modalities include excision, bracing, and fixation. Conclusion: Further research is required to have a more comprehensive view of NF-1 and orthopedics, to diagnose and manage such bony complications. Keywords: Neurofibromatosis-1, orthopedic manifestations, tibial dysplasia.

show abstract

“…It is characterized by multiple neurofibromas (NFs), which can be plexiform and associated with soft tissue overgrowth called elephantiasis neuromatosa ( Fig. 1 ) [18] ; abnormal skin pigmentation (café-au-lait spots, and freckling in the axillary or inguinal regions); and/or iris hamartomas (Lisch nodules). The most common neoplasms associated with NF1 are malignant peripheral nerve sheath tumors (MPNST), optic gliomas, and brain tumors.…”

Section: Hereditary Cancer Syndromesmentioning

confidence: 99%

Radiologic screening and surveillance in hereditary cancers

Clarke

Magoon

Forghani

et al. 2022

European Journal of Radiology Open

View full text Add to dashboard Cite

Elephantiasis neuromatosa of the lower limb in a patient with neurofibromatosis type-1: A case report with imaging findings

Cited by 7 publications

References 8 publications

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

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

Tibial Dysplasia in Neurofibromatosis-1: A Rare Case Report and Review of Literature

Radiologic screening and surveillance in hereditary cancers

Contact Info

Product

Resources

About