Isolated plexiform neurofibroma mimicking a vascular lesion

Abstract Plexiform neurofibromas are benign tumors originating from peripheral nerve sheaths, generally associated with Neurofibromatosis Type 1 (NF1). They are diffuse, painful and sometimes locally invasive, generating cosmetic problems. This report discusses an adolescent patient who presented with an isolated, giant plexiform neurofibroma on her leg that was confused with a vascular lesion due to its clinical aspects. Once the diagnosis was confirmed by surgical biopsy, excision of the lesion was performed with improvement of the symptoms.

Plexiform Neurofibroma: An Unusual Diagnosis of Lip Swellings.

Neurofibromas (NF) are seen either as a solitary lesion or as part of the generalized syndrome of NF (NF-1, also known as Von Recklinghausen disease of the skin). In plexiform neurofibroma (PN), there is proliferation of Schwann cells from the inner aspect of the nerve sheath, thereby resulting in an irregularly thickened, distorted, tortuous structure. Oral involvement by a solitary and peripheral PN in patients with no other signs of NF is rarely seen. It is reported that only 4-7% of patients affected by NF display oral manifestations. A solitary PN in a patient with no other symptoms is a diagnostic challenge, more so when the location of the lesion is one of the rarest sites.

Neurofibroma circunscrito solitario de la vulva / Solitary circumscribed neurofibroma of the vulva

Introdución: el neurofibroma es un tumor de comportamiento benigno que se origina de las células de la vaina nerviosa periférica, puede presentarse en forma solitaria o como lesiones múltiples como parte de la enfermedad de Von Recklingha³sen o neurofibromatosis. Los solitarios son de presentación rara y usualmente no se encuentran asociados a síntomas sistémicos. Objetivo: presentar el caso y la revisión bibliográfica en la literatura nacional y extranjera. Paciente: se presenta el caso de una paciente con un tumor solitario en la vulva tratado de forma quirúrgica en el servicio de Ginecología del Hospital Carlos Manuel de Céspedes y del Castillo de Bayamo, Granma, en octubre del 2011. Resultados: se procedió a retirar la lesión quirúrgicamente mediante cirugía escisional con enucleación del tumor y resección de la piel redundante. Conclusión: el diagnóstico histológico se correspondió con neurofibroma

Introduction: neurofibroma is a benign tumor that originates from cells of peripheral nerve sheath. It may occur as solitary or multiple lesions as part of Von Recklinghausen disease or neurofibromatosis. The solitary lesions are rare and usually they are not associated with systemic symptoms. Objective: case presentation and literature review in national and international literature. Patient: we report the case of a patient with a vulvar solitary tumor, treated surgically at the Department of Gynecology of Carlos Manuel de Céspedes y del Castillo Hospital in Bayamo, Granma, in October 2011. Results: we proceeded to surgically remove the lesion by excisional surgery with enucleation of the tumor and resection of redundant skin. Conclusion: the histological diagnosis was consistent with neurofibroma

Neurofibromatose tipo 1 / Neurofibromatosis type 1

A neurofibromatose tipo 1 (NF1) é a forma mais comum das facomatoses autossômicas dominantes, com uma incidência de 1 em 2.500 a 1 em 3.000 ao nascimento. Clinicamente, a NF1 é caracterizada por manchas café com leite, efélides, neurofibroma da pele, neurofibroma plexiforme, defeitos ósseos, nódulos de Lisch e tumores do sistema nervoso central. O neurofibroma plexiforme, um raro tumor exclusivo de pacientes com NF1, é um tumor benigno da bainha dos nervos periféricos que se espalha sob a pele ou profundamente no corpo. O diagnóstico diferencial da NF1 inclui outras formas de neurofibromatose, afecções com manchas café com leite ou com alterações pigmentares confundidas com manchas café com leite. Uma mulher de 28 anos foi admitida no Hospital Universitário de Santa Maria, apresentando uma massa com grande aumento em seu braço direito com 24 anos de evolução. O aumento se desenvolveu em uma mancha café com leite que estava presente desde o nascimento. Não havia história familiar de neurofibromatose. Foi realizado diagnóstico clínico de NF1 com neurofibroma plexiforme do braço direito

Neurofibromatosis type 1 (NF1) is the most common form of autosomal dominant phakomatoses with an incidence of 1 in 2,500 to 1 in 3,000 at birth. Clinically, NF1 is characterized by café au lait spots, ephelides, skin neurofibroma, plexiform neurofibroma, bone defects, Lisch nodules, and tumors of the central nervous system. Plexiform neurofibroma, a rare tumor unique to patients with NF1, is a benign tumor of peripheral nerve sheath that spreads under the skin or deep in the body. The differential diagnosis of NF1 includes other forms of neurofibromatosis, conditions with café au lait spots or pigment changes confused with café au lait spots. A 28-year-old woman was admitted to the University Hospital of Santa Maria with a largely increased mass in her right arm with 24 years of evolution. The increase developed from a cafe au lait spot that was present since birth. There was no family history of neurofibromatosis. Clinical diagnosis of NF1 with plexiform neurofibroma of the right arm was made

Neurofibroma plexiforme de punta nasal / Plexiform neurofibromatosis of nasal TIP

La neurofibromatosis es una enfermedad genética autosómica dominante y de alta penetrancia que pertenece al grupo de los síndromes neurocutáneos. Se sabe de diversas variedades de neurofibromatosis; sin embargo, las más conocidas son la neurofibromatosis tipo 1 (enfermedad de von Recklinghausen) y neurofibromatosis tipo 2 (neurofibromatosis del nervio acústico bilateral). Se presenta el caso clínico de un paciente de 43 años, sexo femenino, sin antecedentes familiares de importancia, quien presentó aumento de volumen de punta nasal, de lenta progresión, asociado a obstrucción nasal y anosmia significativa. Al examen físico destacaban múltiples manchas de color 'café con leche' y nodulos de diferentes tamaños distribuidos en tórax. El estudio imagenológico con tomografía computarizada de cavidades paranasales mostró un nodulo de partes blandas en la porción cartilaginosa del tabique nasal. Se le realizó una rinoplastía abierta con extirpación total del tumor, con diagnóstico histopatológico compatible de neurofibroma plexiforme de punta nasal. Se analiza el caso del neurofibroma plexiforme de punta nasal, debido a la ubicación infrecuente de éste, y se efectúa una breve revisión bibliográfica del tema.

Neurofibromatosis is a genetic, autosomal dominant disease with high penetrance that belongs to the neurocutaneous syndrome group. There are several varieties of neurofibromatosis, of which the best known are neurofibromatosis type 1 (von Recklinghausen disease) and neurofibromatosis type 2 (schwannoma of the bilateral acoustic nerve). We present a case report of a 43 years old female patient, with no relevant family medical history, whose nasal tip size slowly enlarged, in association with considerable nasal obstruction and anosmia. The physical examination highlighted multiple brown, coffee and milk colored spots and nodules of different sizes distributed in the chest and the back. The imaging study of paranasal cavities with computerized tomography showed a son tissue nodule in the cartilaginous portion of the nasal septum. A total tumor resection and open rhinoplasty were performed. The histopatological diagnosis was plexiform neurofibroma of the nasal tip. We present the case given the unusual location of it and make a brief literature review of the topic.

Facial plexiform neurofibroma in a child with neurofibromatosis type I: a case report.

Plexiform neurofibroma is a non-circumscribed, thick and irregular benign tumor of the peripheral nerve sheath. It is a virtually pathognomonic and often disabling feature of neurofibromatosis type I. The diffuse and soft nature of plexiform neurofibroma is often compared to 'a bag of worms' and is difficult to distinguish from a vascular malformation or a lymphangioma, thus necessitating thorough clinical and histopathological examination and imaging of the lesion. We present a case of plexiform neurofibroma in a 12-year-old male child.

Tumores neurogénicos benignos de cuello / Benign neurogenic tumors of neck

Los tumores neurogénicos de cuello son poco habituales. Esta escasa frecuencia explica el motivo por el cual, usualmente, no se postula su diagnóstico. En una masa cervical ubicada en la región de los nervios craneales, plexo cervical, cadena simpática cervical o nervios periféricos mayores, debe considerarse un origen neurogénico. Una resección no planificada puede ocasionar secuelas neurológicas que en algunas ocasiones podrían evitarse. Presentamos 3 casos tratados en el Servicio de Cirugía del Hospital de Valdivia, describiendo las principales características clínicas e histológicas de cada uno de ellos, su tratamiento y evolución. Además, se entrega una revisión actualizada en relación a esta rara e infrecuente patología

Plexiform neurofibroma: a rare cause of obstructive jaundice

A case of obstructive jaundice secondary to a neurofibroma in the common hepatic duct is presented. The histological appearance was that of a plexiform neurofibroma. The clinicopathological features are discussed