Elephantiasis Neuromatosa Research Articles

A case of elephantiasis neuromatosa

Elephantiasis neuromatosa (EN) is a rare and unique complication of plexiform neurofibroma, a type of neurofibromatosis type 1, and manifests as hypertrophy of an extremity (either lower limb or upper limb). EN can be seen in individuals of any age group including children and young adults where males and females are affected equally. Diagnosis is done primarily by magnetic resonance imaging of the affected region along with a history and clinical examination. EN may lead to severe functional impairment of the involved limb with cosmetic disfigurement. Treatment is mainly surgical with less satisfactory results. Here, we present a 6-year-old child with EN.

Elephantiasis neuromatosa in Type 1 Neurofibromatosis

Type 1 neurofibromatosis (NF-1), or Von Recklinghausen disease, is an autosomal dominant genetic disorder. It is characterized by the presence of multiple neurofibromas. Herein, we reported an interesting case of a particularly aggressive neurofibroma that resulted in lower extremity gigantism; this form of plexiform neurofibromas, called elephantiasis neuromatosa (EN) is rarely described. It usually affects the lower limbs and can be complicated by intractable pain and multiple ulcers.

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.

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

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.

A Case Report of Surgical Debulking for a Huge Mass of Elephantiasis Neuromatosa

Achievement of a safe outcome for an extensive mass with hypervascularity in the extremities requires a surgical team skilled in musculoskeletal oncology. We report debulking surgery for a huge mass of elephantiasis neuromatosa in the right leg of a 56-year old man using the novel Ligasure® vessel sealing system.

Elephantiasis neuromatosa in neurofibromatosis type I

We report the case of a patient with NF-1 who presented with gross elephantiasis neuromatosa of her right leg. Prior to plastic surgery, Magnetic Resonance Imaging and Angiography (MRI and MRA) were performed to provide a detailed assessment of the extension as well as the vascular and muscular involvement of the neurofibroma.

Elephantiasis Neuromatosa and Becker's Melanosis

The most characteristic lesions of neurofibromatosis are the extremely large plexiform neurofibromas involving an entire extremity, which give rise to the condition known as elephantiasis neuromatosa. In this article, we present a patient who was diagnosed as elephantiasis neuromatosa with Becker's melanosis clinically and review the literature briefly.

PLEXIFORM NEUROFIBROMATOSIS: A DIFFICULT SURGICAL PROBLEM

A severe case of plexiform neurofibromatosis with elephantiasis neuromatosa involving the right lower limb and pelvis, leading to a right hip disarticulation, is reported. Abnormal vasculature can make surgical intervention hazardous.

The value of computed tomography in elephantiasis neuromatosa

Neurofibromatosis is a well recognized complex neuroectodermal and mesodermal dysplasia which may affect any organ system to produce a large spectrum of radiological appearances (Klatte et al, 1976; Casselman et al, 1977; Holt, 1978). Soft-tissue lesions may vary from single or multiple neurofibromas within the skin or deep tissues to a more extensive mesodermal dysplasia in which there is generalized hypertrophy of the soft tissues. When, rarely, massive enlargement occurs the condition has been termed “elephantiasis neuromatosa” (Moore, 1941; Westcott & Ackerman, 1947).

Neurofibroma of the leg presenting as chronic lymphedema

A case of long standing Elephantiasis neuromatosa simulating chronic lymphedema is presented. The look of the patient for cosmetic repair and the macroscopical appearance during the operation led to the right diagnosis.

A Case of Elephantiasis Neuromatosa

Elephantiasis neuromatosa is an uncommon disease characterized by large, grotesque tumorous skin hypertrophy. Recentry we experienced a case of this disease.Case: N. Y. 12-year-old girl. At birth she had a large pigmentation in the left thigh, which grew up gradually with skin hypertrophy like an elephant's skin. A tumor in the left inguinal region was noticed at 5 or 6 years old. Her mother has also many neurofibromas and a large pendulous tumor.Pathological examinations of the tumor and the skin revealed a typical plexiform neurofibroma.

Massive Subperiosteal Hemorrhage in Neurofibromatosis

Neurofibromatosis is seen in association with elephantiasis neuromatosa and overgrowth of abnormal bones, but rarely with subperiosteal hemorrhage. This is a secondary finding after severe or minor trauma to the periosteum, which is abnormally loose from mesodermal dysplasia. The clinical, plain radiographic, and angiographic findings of 2 cases of massive subperiosteal hemorrhage are presented, and the literature reviewed.

Neurofibromatosis

The problem of neurofibromatosis is essentially the problem of its pathogenesis and clinical pathological correlation. This is further complicated by the multiplicity of terms used to describe the various clinical and pathological manifestations, and the erroneous concepts of its behavior, particularly in relation to malignancy. It is not the purpose of this communication to be concerned specifically with an attempt at a precise clinical pathological evaluation. This phase of neurofibromatosis and its relationship to malignancy will be the subject of a subsequent paper. Among the terms used to describe neurofibromatosis are the following: forme fruste, molluscum fibrosum, fibroma molluscum, plexiform neuroma, multiple neuroma, neurinomatosis, neurofibromatosis, multiple neurofibromatosis, neuroblastomatosis, neuromatosis, hourglass tumors of the spine, dumb-bell tumor, elephantiasis neuroma, elephantiasis neuromatosa, pachydermatocele, neurofibroma, and von Recklinghausen's disease. Neurofibromatosis is frequently referred to as von Recklinghausen's disease,* since he first reported it in 1882.1Classically the disease is characterized by multiple

VON RECKLINGHAUSEN'S DISEASE

familial incidence of multiple neurofibromatosis, or von Recklinghausen's disease, has long been noted, and most authors today accept the fact that there is a hereditary transmission of the disease. Harbitz, 1 in a review of multiple neurofibromatosis, reported a case of of the left lower extremity and stated that a similar condition had existed in four previous He termed the disease elephantiasis neuromatosa congenita. Castellino 2 stated, The disease assumes a familial character and may be transmitted to the first, second or third generations. Preiser and Davenport, 3 in a review of cases in which there were two or more offspring of an affected parent, found that of 115 offspring 50 were affected and concluded, as did Cockayne, 4 that the defect is a simple dominant. following is a report of a case in which von Recklinghausen's disease can be traced through five patient,

Von Recklinghausen’s Disease with Diabetes Mellitus

THIS CASE is reported because of the unusual finding of diabetes mellitus with Von Reck linghausen’s disease. A survey of the literature has failed to find mention of these two conditions associated in one individual. Fairly complete reviews of Von Recklinghausen’s disease are available (1-7). The term, Von Recklinhausen’s disease, is preferred to neurofibromatosis by many authors. This seems justifiable because the condition appears to be a complex syndrome which may manifest itself in one or more different forms. It is unfortunate that the term, Von Recklinghausen’s disease, is also applied to osteitis fibrosa cystica. Makism (5) lists the following forms in which the disease may make itself evident: (a) formes frustes (incomplete) showing cafe au lait spots, (b) multiple neurofibromatosis (cutaneous, sub cutaneous, peripheral nerve, cranial nerve, spinal nerve or sympathetic nerve tumors), (c) neurofibroma tosis with osseous changes, (d) elephantiasis neuro matosa, (e) mental changes and (f) endocrine ...