Mucosal Schwann cell hamartoma of the gallbladder

Mucosal Schwann cell hamartoma (MSCH) is a rare benign neurogenic tumor characterized by pure S100p positive spindle cell proliferation. Most cases occur in the distal colon. Involvement of the gall bladder is exceedingly rare. There have been no reports of recurrence or a syndromic association with MSCH. Herein, we describe a case of MSCH of the gallbladder in a 55-year-old female patient with prior history of gastrointestinal neurofibromas who presented with abdominal pain. MR imaging revealed choledocholithiasis, gallbladder thickening, and marked biliary and pancreatic ductal dilation. The patient subsequently underwent cholecystectomy with choledochoduodenostomy. Histologic evaluation of the gallbladder showed diffuse expansion of the mucosa with S100p positive cells with spindly nuclei and indistinct cytoplasmic borders and diagnosis of MSCH of the gallbladder was rendered.

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)

Oral and Maxillofacial Complex Lesions in Adolescents: A Retrospective Study of 20 Years / Lesiones Orales y del Complejo Maxilofacial en Adolescentes: Un Estudio Retrospectivo de 20 Años

Studies assessing the prevalence of oral lesions show that 5.2% to 12.8% of biopsy specimens are from children and adolescents. In Brazil, there are few studies analyzing the distribution of oral lesions in that population. Therefore, the aim of this study was to evaluate the distribution of oral and maxillomandibular lesions of adolescents, admitted to the Department of Oral Diagnosis of the Federal University of Paraná (UFPR) from 1994 to 2013. A study based on the review of the charts was done and the lesions were classified in 11 categories: salivary glands disease, dental pathology, gingival and periodontal pathology, odontogenic cysts, odontogenic tumors, non odontogenic cysts, bone pathology, mucosal pathology, connective tissue pathology, malignant tumors and other pathology. Variables including age, sex, ethnicity, diagnosis and lesion location were also evaluated. Upon analysis, 376 lesions were identified, most in girls, 51.9% and 77.1 % of patients were white. The most frequent site was the lower lip followed by the gingiva. Mucocele was the most common lesion (27.6%), followed by fibroepithelial hyperplasia (8.2%) and pyogenic granuloma (5.3%). Although there is a wide range of pathologies that can occur in the oral cavity, traumatic injuries are the most common in this age group.

Los estudios que evalúan la prevalencia de lesiones orales muestran que entre el 5,2% hasta el 12,8% de las muestras de biopsia corresponden a niños y adolescentes. En Brasil, hay pocos estudios que hayan analizado la distribución de las lesiones orales enesa población. Por lo tanto, el objetivo de este estudio fue evaluar la distribución de las lesiones orales y maxilofaciales de adolescentes, ingresados en el Servicio de Diagnóstico Oral de la Universidad Federal de Paraná (UFPR) entre 1994 a 2013. Se llevó a cabo la revisión de historias clínicas y las lesiones halladas fueron clasificadas en 11 categorías: enfermedad de glándulas salivales, patología dental, patología gingival y periodontal, quistes odontogénicos, tumores odontogénicos, quistes no odontogénicos, patología ósea, patología de la mucosa, patología del tejido conectivo, tumores malignos y otras patologías. También se evaluaron otras variables como edad, género, etnia, diagnóstico y localización de la lesión. Luego del análisis, se identificaron 376 lesiones, la mayoría en niñas (51,9%), siendo el 77,1% de los pacientes de raza blanca. La localización más frecuente fue el labio inferior seguida de la encía. El mucocele fue la lesión más común (27,6%), seguido de hiperplasia fibroepitelial (8,2%) y granuloma piógeno (5,3%). Aunque existe una amplia serie de patologías que pueden ocurrir en la cavidad oral, las lesiones traumáticas son las más comunes en este grupo de edad.

Diffuse neurofibroma - an uncommon cause of alopecia / Neurofibroma difuso - uma causa rara de alopecia

Although infrequent, alopecia can be caused by benign cutaneous tumours. Neurofibromas are common benign tumors that originate in the peripheral nerve sheath. Diffuse neurofibroma is a rare variant of neurofibroma that is thought to occur mainly in the head and neck of children and young adults. Histology generally shows an infiltrative tumor, composed of spindle cells in the dermis and subcutaneous tissue. Despite being rare, malignant transformation has been reported. The association between diffuse neurofibromas and neurofibromatosis type 1 still remains to be determined since some authors question the low incidence usually described. We report the case of a 42-year-old man who had a diffuse neurofibroma on the scalp presenting as alopecic plaques.

Apesar de infrequente, a alopecia pode ser causada por tumores cutâneos benignos. Os neurofibromas são neoplasias benignas comuns com origem na baínha externa dos nervos. O neurofibroma difuso é uma variante rara de neurofibroma que ocorre tipicamente na cabeça e pescoço de crianças e adultos jovens. Histologicamente caracteriza-se por um tumor infiltrativo, composto por células fusiformes, localizado na derme e tecido celular subcutâneo. Apesar de rara, a transformação maligna já foi descrita. A associação dos neurofibromas difusos e neurofibromatose tipo 1 ainda não está determinada dado que alguns autores contestam a baixa incidência habitualmente referida. Descrevemos o caso de um homem de 42 anos com um neurofibroma difuso do couro cabeludo com aprasentacao de placas de alopecia.

Neurofibroma subungueal solitário: relato de um caso inédito no sexo masculino / Solitary subungual neurofibroma: a previously unreported finding in a male patient

Neurofibroma é uma proliferação hamartomatosa de origem neuromesenquimal. Pode ser encontrado associado à neurofibromatose ou como tumor solitário, sendo sua apresentação subungueal solitária bastante rara. É mais frequente em pacientes do sexo feminino e a cirurgia é o tratamento de escolha. Relatase um caso de um paciente masculino, com lesão tumoral subungueal no pododáctilo, cuja biópsia e imuno-histoquímica foram compatíveis com neurofibroma. Até a presente data, menos de dez casos sobre neurofibromas subungueais sem associação com doença de Von Recklinhausen foram documentados, sendo este o primeiro caso relatado no Brasil e o único no sexo masculino no mundo.

A neurofibroma is a hamartomatous proliferation of neuromesenchymal origin. It may be found in combination with neurofibromatosis or in the form of a solitary tumor. Clinical presentation as a solitary subungual tumor is very rare. Neurofibroma is more common in females and surgery is the treatment of choice. The present paper reports the case of a male patient with a subungual tumor on his toe. Biopsy and immunohistochemistry findings were compatible with a neurofibroma. To date, fewer than ten cases of subungual neurofibromas unassociated with von Recklinghausen's disease have been documented, this being the first case to be reported in Brazil and the only report worldwide to have described this condition in a male patient.

Neurofibroma with bone destruction masquerading extracranial meningioma

Neurofibromatosis 1 [NF1] an autosomal dominant disorder, is the most common of the phakomatoses [neurocutaneous syndromes] and has a variety of localized or systemic manifestations and the classic systemic lesions include neurofibromas and more specifically, plexiform neurofibromas. A 60-year-old female presented with a progressively increasing swelling over left side of forehead and right lumbar region associated with pain. In addition she had multiple painless swellings all over body. Imaging findings of the brain were suggestive of extracranial meningioma in present case; however the histopathology confirmed the diagnosis of neurofibroma

Neurofibromina: qué hay de nuevo / Neurofibromin: what's new

La neurofibromina es una proteína citoplasmática codificada por el gen NF1, localizado en el cromosoma 17q11.2. Participa en la regulación de diversas vías de señalización molecular: MAPK, P13K, Caveolina y PKA. Cada vía cumple una función particular, con un objetivo final común, el control de genes involucrados en el crecimiento, apoptosis, diferenciación y migración celular. Realizamos una revisión sobre la neurofibromina, las vías de señalización en las que está implicada y su relación con las manifestaciones clínicas de la neurofibromatosis.

Neurofibromatose tipo 1 com manifestação oral: relato de caso e revisão da literatura / Neurofibromatosis type 1 with oral manifestation: a case report and literature review

Neurofibromatosis type 1 is an autosomal dominant condition characterized by the presence of benign skin tumors, alterations in the nervous system, bones and endocrine glands. It may be followed by mild mental retardation, convulsions, malignant tumors, osseous dysplasia and abnormal pigmentation. The aim of this paper is not only to report the case of a patient with neurofibromatosis type 1 with manifestation in the oral cavity, represented by the presence of a large nodular mass in the tongue, but also to undertake a brief review of this condition. The work concluded that, despite the fact that neurofibromatosis type 1 is a rare condition, which may present manifestations in the oral cavity, its study is of paramount importance to dental surgeons and multidisciplinary groups.

A neurofibromatose tipo 1 é uma condição hereditária autossômica dominante caracterizada pela presença de tumores benignos na pele, alterações em sistema nervoso, ossos e glândulas endócrinas, e que pode ser acompanhada de leve retardo mental, convulsões, tumores malignos, displasia esquelética e desordem da pigmentação. O trabalho tem como objetivo relatar o caso de uma paciente portadora de neurofibromatose tipo 1 com manifestação na cavidade oral, representada pela presença de extensa massa nodular na língua, além de fazer uma breve revisão dessa condição. Concluiu-se que, apesar de a neurofibromatose tipo 1 ser uma condição rara que pode apresentar manifestação na cavidade oral, é de extrema importância o seu conhecimento por parte dos cirurgiões-dentistas e da atuação de uma equipe multidisciplinar.

Neurofibroma de tireóide em uma paciente com neurofibromatose tipo 1 / Neurofibroma of thyroid in a patient with neurofibromatosis type 1

A neurofibromatose tipo 1 (NF1), também conhecida como doença de von Recklinghausen, é uma doença autossômica dominante com alto grau de variabilidade da expressão clínica, comumente envolvida na formação de tumorações na maioria das vezes de origem benigna, localizadas principalmente na região da cabeça e do pescoço, sendo a tireóide acometida raramente. Porém existe na literatura a associação com carcinoma medular da tireóide (CMT), necessitando sempre sua exclusão. Relatamos o caso de uma paciente com NF1, com um nódulo de tireóide não-funcionante e sintomas obstrutivos. Foi realizada ressecção cirúrgica da lesão, com achados histopatológicos compatíveis com neurofibroma em tecido tireoidiano. A importância desse caso deve-se não só à raridade dessa apresentação da NF1, mas também à possibilidade de associação desta com CMT, tumor agressivo com possibilidade de cura pela ressecção cirúrgica.

The neurofibromatosis type 1 (NF1), also known as von Recklinghausen’s disease, is an autosomal dominant disorder, with high degree of variability of clinical expression, usually involved with formation of tumors, with benign origin in the majority of cases mainly localized in the region of the head and neck and rarely incident in the thyroid area. However, the association with medullary carcinoma of the thyroid (MCT) exists in literature and needs to be excluded. We report a case of a patient with NF1, nonfunctional thyroid nodule and obstructive symptoms. Surgical resection of lesion was performed, with histopathologic findings compatible with neurofibroma in thyroid tissue. This case is relevant not only because of the rarity of the presentation of NF1, but also due to the likely association with MCT, an aggressive tumor that can be cured by surgery.

Neurofibroma central de la mandíbula: informe de un caso / Central neurofibroma of the mandible: report of a case

El neurofibroma raramente aparece como una lesión solitaria, excepto cuando está presente en los huesos maxilares. Por el contrario, múltiples lesiones se observan en la neurofibromatosis de Von Recklinhausen. El neurofibroma central ha sido informado tanto en mandíbula como en maxilar; sin embargo, esta última ubicación es la más común. Presentamos un caso de neurofibroma central de la mandíbula.

Intraosseous Nerve Sheath Tumors in the Jaws

Although the head and neck region is recognized as the most common location for peripheral nerve sheath tumors, central involvement, particularly in the jaw bones, is quite unusual. Neurofibroma is one of the most common nerve sheath tumors occurring in the soft tissue and generally appears in neurofibromatosis 1 (NF1 or von Recklinghausen's disease). Malignant peripheral nerve sheath tumors (MPNSTs) are uncommon sarcomas that almost always arise in the soft tissue. Here, we report four cases of intraosseous peripheral nerve sheath tumors occurring in the jaw bones and compare the clinical, radiologic, and pathologic findings in order to make a differential diagnosis.

Peripheral nerve sheath tumours--a short series with some uncommon variants.

Peripheral nerve sheath tumours are rarely malignant (0.001%), such malignant peripheral nerve sheath tumours (MPNST) are more common in upper extremities than in head and neck. Chondroid differentiation in benign peripheral nerve sheath tumours and melanotic schwannoma are very uncommon. In a retrospective analysis of 25 peripheral nerve sheath tumours over a period of two years, we reported two MPNST one of which was in a parapharyngeal location while the other MPNST showed melanotic differentiation. Similar melanotic differentiation was also seen in another benign melanotic schwannoma. Chondroid differentiation in a schwannoma was also observed which is usually documented in MPNST.

Diffuse neurofibroma of scalp.

Diffuse neurofibroma is an uncommon but distinct variety of neurofibroma, usually affecting trunk, head and neck regions of adolescents and young adults. The clinical features, gross macroscopic and histopathological findings are enunciated and the criteria for instituting the preferred modality of treatment for such lesions has been reviewed, stressing upon the need to exclude the neurofibromatoses preoperatively.

Sinonasal neurogenic tumours.

Among the surgically excised or biopsied sinonasal tumours in a span of ten years, the neurogenic tumours formed 6.7% of all sinonasal tumours. They were eight in number, three schwannomas, two neurofibromas and three malignant schwannomas with occurrence in a wide age range and no gender predilection. Nasal obstruction and epistaxis were common modes of presentation with a unilateral location. The diagnosis of benign neurogenic tumours do not pose difficulty. However, malignant schwannoma should be considered when one encounters a cellular spindle cell lesion in sinonasal region.

Soft tissue tumours of eyelid.

Soft tissue tumours of eyelid constituted 28.9% of all eyelid tumours. Morphologically they were either vascular 32 cases (49.23%), neural 24 cases (36.92%), fibrous 6 cases (9.23%) or adipose tissue tumours 3 cases (4.62%). The age ranged from 1-30 years, haemangiomas and neurofibromas were present since birth. Upper eyelid was involved in 81.54% cases. Neurofibroma was associated with generalized lesions in 13.6% cases.