Neurofibromatosis laríngea pediátrica: reporte de localización atípica / Pediatric neurofibromatosis of the larynx: report of atypical location

Los neurofibromas laríngeos (NFL) son tumores benignos poco frecuentes de localización principalmente supraglótica. Se manifiestan con síntomas obstructivos de la vía aérea. El tratamiento es la resección completa del tumor mediante abordaje endoscópico; se reserva la cirugía abierta para tumores de gran extensión. Se presenta el caso de un paciente pediátrico con localización atípica de NFL asociado a neurofibromatosis tipo 1 (NF1). Se realizó resección endoscópica del tumor y la anatomía patológica informó neurofibroma plexiforme. Es importante sospechar de esta patología en todo niño con estridor inspiratorio atípico progresivo. Se sugiere seguimiento a largo plazo por la alta probabilidad de recidiva.

Laryngeal neurofibromas (LNFs) are rare benign tumors mainly located in the supraglottis. LNFs occur with airway obstruction symptoms. The treatment is complete resection via an endoscopic technique; the open approach is reserved for large tumors. Here we describe the case of a pediatric patient with LNF of atypical location associated with neurofibromatosis type 1 (NF-1). The tumor was resected with an endoscopic technique, and the pathological study reported a plexiform neurofibroma. It is important to suspect this condition in any child with atypical, progressive inspiratory stridor. Long-term follow-up is recommended due to the high rate of recurrence

Neurofibromatosis Type 1 in a Child with Plexiform Neurofibroma Pressing the Urinary System / 罕见病研究

A 3-year-old male patient was diagnosed with neurofibromatosis type 1(NF1) for two years. The patient has multiple neurofibromas in retroperitoneum, lumbococcygeal paravertebral, lumbosacral spinal canal, and foramina. Due to retroperitoneal mass compression, the child suffered from urological complications such as hydronephrosis, ureterdilation, neurogenic bladder, etc., which seriously affected the urination function and resulted in multiple surgical treatments. Currently, the patient has been treated with mitogen activates extracelluar signal-regulated kinases(MEK) inhibitor selumetinib targeted therapy, and has voluntarily urinated, and his general state is better than before medication. The diagnosis and treatment of this case reflects the importance of multidisciplinary collaboration in the diagnosis and treatment of rare diseases.

Neurofibroma plexiforme gigante del nervio ciático en una adulta burkinesa / Giant plexiform neurofibroma of the sciatic nerve in a Burkinabé adult

Se presenta el caso de una paciente de 36 años de edad con antecedente patológico de enfermedad de Von Reklinghausen, quien fue asistida en el Servicio de Cirugía General del Centro Hospitalario de Kossodô en Burkina Faso por presentar un tumor gigante en la región posterior del muslo derecho. Los exámenes complementarios confirmaron el presunto diagnóstico de neurofibroma plexiforme gigante del nervio ciático. Durante el procedimiento quirúrgico se extirpó un tumor infrecuente cuyo peso excedió los 22,5 kg. Con el tratamiento rehabilitador posoperatorio del miembro operado la paciente evolucionó satisfactoriamente y se le dio el alta hospitalaria 7 días después.

The case report of a 36 years patient with pathological history of Von Reklinghausen disease is presented. She was assisted in the General Surgery Service of the Hospital Center from Kossodô in Burkina Faso presenting a giant tumor in the back region of the right thigh. The complementary exams confirmed the presumed diagnosis of giant plexiform neurofibroma of the sciatic nerve. During the surgical procedure an uncommon tumor was removed which weight exceeded the 22.5 kg. With the postoperative rehabilitative treatment of the operated member the patient had a favorable clinical course and she was discharged from the hospital 7 days later.

Isolated giant plexiform neurofibroma of lower back: a rare case presentation

Plexiform neurofibroma is a rare benign tumor of the peripheral tissue cells that develops in the perineurium that is often considered pathognomonic of neurofibromatosis type 1 (NF1 or von Recklinghausen disease). They occur most frequently in the craniomaxillofacial region, rarely on back and extremities. They are extremely vascular and there is 15-20% potential for malignant transformation. A 35-year-old married female presented with painless swelling in left lower back that began at around 8 years of age. The swelling gradually increased in size. The patient reported embarrassment over the disfigurement caused by the mass. Her medical history was unremarkable and none of the relatives was known to be affected. Surgical resection of the swelling with primary closure was done. Histopathology findings were consistent with neurofibromatosis. Hereby reporting a rare case of isolated plexiform neurofibroma of lower back which was surgically cured as a perusal of rare entity. We also try to emphasize on the need of sprightful clinical diagnosis with multidisciplinary approach in the management of these type of tumors. Finally, we insist on the need of a long term clinical and radiological follow-up of these patients to assess  post resection recurrence or malignant transformation.

Neurofibromatosis tipos 1 y 2 / Neurofibromatosis type 1 and 2

La neurofibromatosis (NF) comprende un grupo de enfermedades genéticas de herencia autosómica dominante, que se clasifican de la siguiente manera: neurofibromatosis tipo 1 (NF1), neurofibromatosis tipo 2 (NF2) y schwannomatosis (también conocida como neurofibromatosis tipo 3). Esta última es una enfermedad muy infrecuente, con una prevalencia aproximada de 1/126 000 personas, por lo que solo profundizaremos las dos primeras. La NF1, también conocida como la enfermedad de Von Recklinghausen, es la más frecuente de las tres y afecta principalmente la piel y el sistema nervioso periférico. Se caracteriza por la presencia de máculas "café con leche", pecas axilares o inguinales, nódulos de Lisch (hamartomas en el iris) y neurofibromas (tumores de la vaina de nervios periféricos). Otras manifestaciones menos frecuentes, aunque de mayor gravedad, incluyen gliomas del nervio óptico, meningiomas, neurofibromas malignos, escoliosis y displasia de la tibia. Su diagnóstico se suele realizar al nacimiento o durante los primeros años de vida, y se estima que un 50% de quienes la padecen presenta dificultades cognitivas. No hay datos concluyentes sobre la mortalidad en los pacientes con NF1, aunque se sabe que la expectativa de vida es menor que en la población general. La NF2 tiene una prevalencia considerablemente menor que la NF1 y su inicio es más tardío, afectando principalmente a adultos jóvenes. La presentación clínica típica se caracteriza por acúfenos, hipoacusia y ataxia en contexto de la presencia de schwannomas vestibulares bilaterales. Otros hallazgos menos frecuentes incluyen schwannomas de nervios periféricos, meningiomas, ependimomas o astrocitomas. La esperanza de vida es de unos 36 años, con una supervivencia media desde el momento del diagnóstico de 15 años. (AU)

Neurofibromatosis (NF) includes a group of genetic diseases with an autosomal-dominant inheritance pattern, and they are classified as follows: Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and Schwannomatosis (also known as neurofibromatosis type 3). This last one is a very rare disease, with an approximate prevalence of 1/126000, so we will only deepen in the first two. NF1, also known as von Recklinghausen disease, is the most frequent, and mainly affects the skin and peripheral nervous system. Its typical manifestations are the presence of café-au-lait macules, axillary or inguinal freckles, Lisch nodules (hamartomas in the iris) and neurofibromas (peripheral nerve sheath tumors). Less frequent manifestations, although more serious, include optic nerve gliomas, meningiomas, malignant neurofibromas, scoliosis and tibial dysplasia. The diagnosis is usually made at birth or during the first years of life, and approximately 50% of patients present cognitive difficulties. There is no conclusive data on mortality in patients with NF1, although it is known that life expectancy is lower than in general population. NF2 has a considerably lower prevalence than NF1, and its onset is later in life, mainly affecting young adults. Its typical clinical presentation is characterized by tinnitus, hearing loss and ataxia in the context in the presence of bilateral vestibular schwannomas. Less frequent findings include peripheral nerve schwannomas, meningiomas, ependymomas or astrocytomas. Life expectancy is about 36 years old, with a median survival from the moment of diagnosis of 15 years. (AU)

Microsurgical treatment of the plexiform neurofibroma in the forearm and palm / 中华显微外科杂志

To explore the clinical effect of microsurgery in the treatment of the tumor which was diagnosed with the plexiform neurofibroma (PN) of the forearm and palm. Methods From January, 2014 to June, 2017, 6 cases of the PN in the forearm and palm were removed by microsurgery such as neurovascular transplantation, separation and anastomosis under microscope, etc. There were 4 males and 2 females, with an average age of 9.2 (range, 2-18 )years. There was 1 case with PN of the median nerve, ulnar nerve and their branches in the right fore-arm and palm, 2 cases with PN of the median nerve and its branches in the right forearm and palm, 2 cases with PN of the median nerve and its branches in the left forearm and palm, and 1 case with PN of the ulnar nerve and its branches in the left forearm and palm.The postoperative function and feeling of the patients were evaluated by outpa-tient followed-up. Results The pathological results of 6 patients all showed PN, and their incisions healed primari-ly.The patients were followed-up for 6 to 36 months, with an average of 18 months. No obvious scar formation was observed in all incisions. Among them, PN of the palmar of the youngest patient recurred after the operation, and it was resected in a second operation.The remaining 5 patients had no recurrence during follow-up.The 2 point resolu-tion of each fingertip of the affected limb of the patients who had median and ulnar PN was 2-5 mm, with an average of 3.30 mm; the 2 point resolution of the thumb, indicator, middle and ring fingers of the affected limbs of the patients who had median PN was 2-5 mm, with an average of 2.95 mm; the 2 point resolution of the ring and little fingers of the affected limbs of the patients who had ulnar PN was 3-4 mm, with an average of 3.50 mm.According to the related evalu-ation criteria made by the American Orthopedic Foot and Ankle Surgery Society (AOFAS), the results of the forearm and hand functions were excellent in 5 cases, good in 1 case. Conclusion The application of microsurgical techniques in the treatment of PN in the forearm and palm can be effective separation of tumor and nerve fibers, effectively protect the branches of the median nerve and ulnar nerve and their blood circulation, prevent recurrence and reduce nerve damage after operation.

A Rare Presentation of Plexiform Neurofibroma

We report on a rare case of a child with persistent right upper lid eversion with conjunctival prolapse since birth that failed various attempts in repositioning the right superior fornix at other centre. He was found to have a right supero-temporal orbital mass above the prolapsed area. Computerized tomography (CT) scan of orbit confirmed a right lacrimal gland tumour with thinning of the right lesser wing of sphenoid. An excision biopsy of the tumour via anterior orbitotomy and eyelid reconstruction were performed. Histopathology report reviewed plexiform neurofibroma of the lacrimal gland. Further physical examination confirmed presence ofmultiple café-au-lait spots. He was diagnosed as Neurofibromatosis Type 1

Solitary Pigmented Plexiform Neurofibroma in Lower Eyelid: A Case Report

PURPOSE: Solitary plexiform neurofibroma of the eyelid without neurofibromatosis is a rare disease. We report a case of solitary plexiform pigmented neurofibroma of the eyelid without neurofibromatosis. CASE SUMMARY: A 12-year-old male visited our clinic with a painless palpable subcutaneous mass on the right lower eyelid. He had a history of Batter syndrome and attention deficit hyperactivity disorder. On initial presentation, clinical features regarding neurofibromatosis such as Lisch nodule, optic nerve glioma, or high myopia were not observed. We performed excision and biopsy of the lower lid mass under general anesthesia. Macroscopically, the tumor was 4.0 × 1.5 × 1.5 cm in size with irregular nodules. Microscopically, the tumor consisted of multiple, variably sized tortous enlarged nerve fascicles with clusters of pigmented cells. Immunohistochemical results revealed expression of S-100 protein. Pigmented cells express both S-100 and melan-A proteins, while nonpigmented cells express S-100 protein only. The tumor was finally diagnosed as plexiform pigmented neurofibroma. Dermatological evaluation revealed no evidence of systemic neurofibromatosis. CONCLUSIONS: Plexiform neurofibroma should be considered in the differential diagnosis of an eyelid mass, even if the patient does not have a history or clinical features of neurofibromatosis. Plexiform neurofibroma can be successfully managed with surgical excision.

A case of portal hypertension by presumed as plexiform neurofibroma at the hepatic hilum

Neurofibromas can occur anywhere in the body, but they usually involve the head, neck, pelvis, and extremities. Abdominal visceral involvement is rare, and intrahepatic involvement is even less common. We describe a patient who suffered from plexiform neurofibromatosis with liver involvement. A 49-year-old man, who had previously been diagnosed with neurofibromatosis, underwent esophagogastroduodenoscopy and abdominal ultrasonography for screening purposes. Esophagogastroduodenoscopy showed grade 2 esophageal varices and abdominal ultrasonography showed conglomerated nodules with echogenic appearances in the perihepatic space. Magnetic resonance imaging showed presumed plexiform neurofibroma involving the lesser sac and hepatic hilum and encasing the common hepatic artery celiac trunk and superior mesenteric artery left portal triad. We report an unusual case of portal hypertension attributed to the compressive narrowing of the portal vein by presumed as plexiform neurofibroma at the lesser sac and hepatic hilum.

Massive Plexiform Neurofibroma of the Neck and Larynx

Introduction Laryngeal neurofibromas are extremely rare, accounting for only 0.03 to 0.1% of benign tumors of the larynx. Objectives To report the first case of massive neck plexiform neurofibroma with intralaryngeal (supraglottic) extension in a 5-year-old boy with neurofibromatosis type 1 and to describe its treatment. Resumed Report This massive plexiform neurofibroma was surgically removed, relieving its significant respiratory obstructive symptoms without recurrence to date. Conclusion Massive neck plexiform neurofibroma with supraglottic part was found in a child with neurofibromatosis type 1; it should be included in differential diagnosis of stridor and neck mass in children. It was diagnosed and removed in early in childhood without recurrence.(AU)

Repercussões clínicas e radiológicas do neurofibroma plexiforme na região pélvica / Clinical and radiological repercussions of plexiform neurofibroma in the pelvic region

Descrição de caso de neurofibroma plexiforme localizado na região pélvica comprometendo bexiga, próstata e coluna lombossacra, com evolução de três anos e seis meses. Diante de contraindicação de remoção cirúrgica, foi realizado acompanhamento clínico e radiológico semestral, sem constatação de crescimento tumoral. Na neurofibromatose tipo 1, as manifestações clínicas são diversas e a equipe médica deve estar atenta à investigação complementar e pode ser surpreendida por um achado raro. As massas pélvicas volumosas podem, eventualmente, corresponder a neurofibromas plexiformes, sendo útil a investigação de neurofibromatose caso o paciente ainda não tenha esse diagnóstico.

The authors report the case of a plexiform neurofibroma located in the pelvis, affecting the bladder, prostate and spine (lumbar/sacral), followed-up for three years and six months. Surgical removal was contraindicated and the patient underwent biannual clinical and radiological follow-up that did not demonstrate any tumor increase. The clinical manifestations of neurofibromatosis type 1 are variable, and the medical team should be attentive to further investigations, considering possible unexpected rare findings. Large pelvic masses may correspond to plexiform neurofibromas, so the diagnostic hypothesis of neurofibromatosis should be taken into consideration.

An unusual combination of Unilateral Orbital Plexiform Neurofibroma in a patient with oculocutaneous albinism.

A 70‑year‑old female patient presented with proptosis of right eye for the past 15 days and defective vision in both eyes since birth. She was found to have eccentric painful proptosis of right eye along with features of oculocutaneous albinism. Eccentric proptosis was due to an orbital mass which proved to be a plexiform neurofibroma by histopathological examination. The case is presented for its rarity, as an isolated orbital plexiform neurofibroma without the systemic features of neurofibromatosis is rare and its coincidental presentation with oculocutaneous albinism is yet rare and has not been reported so far.

Plexiform Neurofibroma from Palmaris Longus with Carpal Tunnel Syndrome.

Plexiform neurofibromas (NF) involving the palmaris longus tendon are rare diseases difficult to diagnose when the classical manifestations, e.g. skin pigmentation, sub cutaneous nodules, lisch nodules, family history, etc are absent. We report a case of 26 years male with plexiform NF of palmaris longus tendon which is a relatively rare site. Plexiform NF commonly involve the cranial nerves.

Neurofibroma plexiforme cecal em paciente com neurofibromatose tipo 1 / Cecal plexiform neurofibroma in a patient with neurofibromatosis type 1

A Neurofibromatose Tipo I (NF-1) ou doença de Von Recklinghausen é uma doença genética autossômica dominante com uma incidência de 1 em 2600-3000 indivíduos. As características mais típicas são as manchas café com leite e os neurofibromas da pele. Outros sistemas também podem ser afetados, incluindo o aparelho cardiovascular, olhos, ossos e o trato gastrointestinal. O envolvimento gastrointestinal tem sido documentado em 25% dos pacientes com NF-1, principalmente o estômago e o intestino delgado. O envolvimento do esôfago e do cólon é raro. Nosso objetivo é relatar um caso raro de neurofibroma plexiforme do cólon, em paciente com NF-1 até então não diagnosticada.

The Neurofibromatosis type I (NF-1) or Von Recklinghausens disease is an autosomal dominant disorder with an incidence of 1 in 2600-3000 individuals. The most characteristic features are the stains coffee with milk and skin neurofibromas. Other systems may also be affected, including the cardiovascular system, eyes, bone and gastrointestinal tract. The gastrointestinal involvement has been documented in 25% of patients with NF-1, primarily the stomach and small intestine. The involvement of the esophagus and the colon is rare. Our goal is to report a rare case of plexiform neurofibroma of the colon in a patient with NF-1 hitherto undiagnosed.

Características del neurofibroma plexiforme en pacientes con neurofibromatosis tipo 1. Pinar del Río / Characteristics of plexiform neurofibroma in patients suffering from Type-1 Neurofibromatosis. Pinar del Rio

El neurofibroma plexiforme es un tumor complejo, que involucra varios tejidos. Llevan a una distorsión masiva del lugar donde se encuentran, originando problemas estéticos y médicos. Con este trabajo se pretende conocer la frecuencia de los neurofibromas plexiformes, en los pacientes con neurofibromatosis tipo 1, la localización, sexo y otras características clínico-genéticas y diseñar un protocolo de diagnóstico y tratamiento de los neurofibromas plexiformes en la provincia. Se realizó un estudio descriptivo, transversal a pacientes, con neurofibroma plexiforme. Del total de pacientes, 34 presentaron neurofibroma plexiforme, predominando el sexo femenino. La mayoría de los neurofibromas plexiformes se localizaron en extremidades, tronco y cráneo-cara. La hiperpigmentación y la hipertricosis resultaron los signos clínicos más frecuentes. Se diseñó un protocolo para el diagnóstico y tratamiento de los afectados.

Plexiform neurofibroma is a complex tumor involving several tissues, this tumor provokes a massive distortion of the region where it is located leading to esthetical and medical problems. This work was aimed at knowing the frequency of plexiform neurofibromas in patients suffering from Type-1 neurofibromatosis, location, prevalence of sex and other clinical-genetic characteristics to design a protocol of diagnosis and treatment of plexiform neurofibromas in Pinar del Rio province. A descriptive, cross-sectional study was carried out in patients suffering from plexiform neurofibroma. Out of the total of patients, 34 presented plexiform neurofibroma, female sex prevailed. The majority of plexiform neurofibromas were located in limbs, torso and skull-face. The hyperpigmentation and the hypertrichosis were the most frequent clinical signs. A protocol was designed to accomplish the diagnosis and treatment of the patients affected.

Surgery for Massive Paediatric Head and Neck Neurofibroma: Two Case Reports

We report two paediatric patients with massive head and neck plexiform neurofibromas who underwent surgical excision. We wish to highlight issues and implications pertaining to the surgery, in particular, the management of intraoperative bleeding often encountered in these cases.

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

Análise epidemiológica de neurofibromatose tipo 1 em hospital de referência do Estado do Rio de Janeiro / Epidemiological analysis of neurofibromatosis type 1 in a reference hospital in Rio de Janeiro State

Fundamento: A neurofibromatose é uma doença genética autossômica dominante e tem sido observada em diferentes partes do mundo, em todas as raças, com correlação idêntica entre homens e mulheres. Trata-se de uma doença crônica e progressiva.Objetivos: Descrever o perfil epidemiológico de pacientes com diagnóstico de neurofibromatose tipo 1, atendidos em um hospital de referência do Estado do Rio de Janeiro, segundo variáveis de interesse social, demográfico e clínico.Métodos: Neste trabalho foram analisados os pacientes do Ambulatório de Neurofibromatose no ano de 2003. Foram avaliadas algumas variáveis como: primeira consulta e retorno, casos confirmados e suspeitos, sexo, idade média atual dos pacientes, idade média no diagnóstico, Estado de origem, herança, encaminhamento dos pacientes, número de manchas café com leite entre 0,5 e 1,5 cm, número de manchas café com leite acima de 1,5 cm, localização das efélides, tipo de neurofibromas, localização dos neurofibromas plexiformes, alterações causadas pela neurofibromatose.Resultados: No ano de 2003 foram atendidos 62 pacientes. Destes, 53 (85%) foram primeira consulta e 9 (15%) foram retorno. O diagnóstico de neurofibromatose tipo 1 foi confirmado na primeira consulta em 50 pacientes (94%), sendo 30 (60%) do sexo feminino e 20 (40%) do masculino. A idade média foi de aproximadamente 14 anos de idade, com desvio padrão igual a 11,15.Observou-se que 41 (82%) dos pacientes atendidos eram provenientes do próprio Estado do Rio de Janeiro, seguido de Minas Gerais com 4 (8%) e Rio Grande do Sul com 2 (4%). Dos Estados de Goiás, Pernambuco e Bahia veio apenas um paciente cada. Em 23 pacientes (46%) a neurofibromatose se apresentou com herança familiar e em 27 pacientes não foi relatado familiar afetado. A maioria dos pacientes vieram encaminhados por seus médicos. Manchas café com leite entre 0,5 e 1,5 cm foram observadas em 47 pacientes (94%). Número de manchas café com leite maior que 1,5 cm pôde ser encontrada em 42 pacientes (84%).As efélides foram encontradas na região axilar unilateralmente em 3 pacientes (6%), bilateralmente em 37 (74%) e em outras dobras em 17 pacientes (34%).Neurofibromas subcutâneos estavam presentes em 33 pacientes (66%), neurofibromas cutâneos em 39 (78%) e neurofibromas plexiformes em 15 (30%). Alteração cosmética relacionada à neurofibromatose foi a queixa de 19 pacientes (38%).Conclusões: Através deste trabalho e outros foi possível obter informações importantes como a incidência das manifestações clínicas da neurofibromatose e sua história natural, possibilitando um melhor atendimento aos pacientes e melhores condições para pesquisas de novas terapias.

Neurofibromatosis: Neurofibroma plexiforme localizado en mama. A propósito de un caso / Neurofibromatosis: Plexiform Neurofibroma Localized In Mamma. A Propos Of A Case

La Neurofibromatosis fue descrita por Von Recklinghausen en 1882. Es una genodermatosis autosómica dominante con alta penetrancia, expresividad variable y curso progresivo; se calcula que en el 50% de los casos se deben a mutaciones espontáneas (de novo), con una incidencia de 1/3000 recién nacidos. Clínicamente se manifiesta por el compromiso de los tejidos derivados del neuroectodermo y mesodermo. Muestra alteraciones oculares, neurológicas, de partes blandas, cutáneas, óseas, endocrinológicas y lesiones viscerales. En la actualidad se admiten dos formas clínicas principales: la Neurofibromatosis clásica o de tipo I que representa el 85-90 % de los casos y la Neurofibromatosis tipo II (Neurofibromatosis del acústico bilateral) muy poco frecuente.

The Neurofibromatosis was described by von Recklinghausen in 1882. It is a dominant autosomic genodermatosis with a high penetration, variable clinic and progressive course; it is calculate, that in 50% of the cases the origin is a spontaneous mutations (novo). The incidence is 1/3000 newly born. The clinical manifestations are: the compromise of tissues derived from neuroectoderm and mesoderm. It also has ocular symptoms, visceral injuries, neurological alterations and endocrinological pathologies. Soft pars, cutaneous tissue and bones are affected. At the present time two main clinical forms are admitted: the Classic Neurofibromatosis or type I, that represents 85-90% of the cases and the Neurofibromatosis type II (Neurofibromatosis of the bilateral hearing aid) that it ´s not so frequent.

A case of plexiform neurofibroma involving the mediastinum and abdomen in a patient with neurofibromatosis / 대한내과학회지

Plexiform neurofibroma is a benign proliferation that arises from the peripheral nerves and represents one of the diagnostic features of neurofibromatosis type I (NF-1). They are commonly found in the gastrointestinal tract, and intrathoracic neurofibroma is relatively uncommon. Ultimately, this tumor grows along the length of any single nerve and may involve multiple fascicles or branches of major nerves. Here, we report a case of multiple-site plexiform neurofibromas in a 40-year-old man previously diagnosed with NF-1. Although he had no perceptible symptoms, contrast-enhanced CT revealed massive diffuse neurofibromas that involved the mediastinum, periportal region, retroperitoneal space, and the mesentery. Histopathological studies of the neck, skin, and intra-abdominal soft tissue showed loose spindle cells and collagen bundles. The microscopic appearance was typical of a plexiform-type neurofibroma. It was decided that we would observe the patient without surgical management, because the neurofibromas were asymptomatic.