Neurofibromatosis de von Recklinghausen: presentación de un caso de neurofibroma vaginal y revisión de la literatura / von recklinghausen’s neurofibromatosis: presenting a case of vaginal neurofibroma and literature review

Objetivo: revisar las manifestaciones de la neurofibromatosis de presentación en la región genital, el diagnóstico diferencial y el manejo de las lesiones.Materiales y métodos: paciente de 63 años remitida por masa en región genital a la Unidad de Colposcopia y Patología del Tracto Genital Inferior del Hospital de Suba, institución pública de segundo nivel de complejidad ubicada en Bogotá, Colombia, donde se atiende a población del régimen subsidiado. Al examen físico se encontraron manchas café-au-lait y lesiones compatibles con neurofibromas que orientaron el diagnóstico de neurofibromatosis tipo 1. Se realizó una búsqueda sistemática de la literatura en Medline-Pubmed usando los términos MeSH neurofibromatosis, enfermedad de von Recklinghausen, vagina, tracto genital, tumor pélvico; se presenta el caso clínico y la revisión del tema.Resultados: se encontraron 7991 publicaciones relacionadas con neurofibromatosis, y de estas solo 30 relacionadas con lesiones pélvicas y de tracto genitourinario; solo 6 reportes de casos y una serie de casos presentaban lesiones localizadas en tracto genital inferior. Para la descripción de las generalidades y los criterios diagnósticos se seleccionaron 12 artículos de revisión del tema. El diagnóstico diferencial incluye schwannoma, neuroma, mixoma, leiomioma y pólipo fibroepitelial.Conclusiones: el hallazgo de neurofibromas en el tracto genitourinario es un evento de baja ocurrencia y es un tema de interés para ginecólogos, pediatras y urólogos pues constituye un reto diagnóstico.

Objective: Reviewing manifestations of neurofibromatosis presenting in the genital region, their differential diagnosis and managing lesions. Materials and methods: The case of a 63-year-old patient admitted to the Suba hospital’s colposcopy and pathology of the lower genital tract service due to having a mass in the genital region is presented; the hospital is a second level complexity public institution in Bogotá, Colombia, dealing with a subsidised regime population. Physical examination revealed café-au-lait spots and lesions compatible with neurofibroma, thereby orientating diagnosis towards neurofibromatosis type 1. A systematic search was made of the literature in Medline-Pubmed, using the MeSH terms: neurofibromatosis, von Recklinghausen’s disease, vagina, genital tract, pelvic tumour. A clinical case and review of the topic are presented. Results: 7,991 publications related to neurofibromatosis were found. Just 30 of them were related to pelvic lesions and the genitourinary tract and only 6 case reports and one case series dealt with lesions located in the lower genital tract; 12 articles reviewing the topic were selected for a description of the diagnostic generalities and criteria. Differential diagnosis included schwannoma, neuroma, myxoma, leiomyoma and fibroepithelial polyp. Conclusions: A neurofibroma being identified in the genitourinary tract is an infrequently occurring event, constituting a topic of interest for gynaecologists, paediatricians and urologists as it represents a diagnostic challenge.

Ganglioneuroma Associated with Von Recklinghausen Neurofibromatosis / 대한피부과학회지

Ganglioneuroma is the benign tumor exclusively composed of fully differentiated mature ganglion cell, Schwann cells and fibrous tissue. It develops most commonly in the posterior mediastinum and retroperitoneum but cutaneous involvement is exceedingly rare. Cutaneous tumor showing ganglion cells includes the following three entities: 1) primary ganglioneuroma, 2) well differentiated cutaneous metastasis from neuroblastoma, and 3) ganglioneuroma associated with von Recklinghausen's neurofibromatosis. Among them, the third has been considered as a neurofibroma with entrapment of ganglion cell. We described 2 cases of ganglioneuroma associated with von Recklinghausen neurofibromatosis and reviewed the histopathological and immunohistochemical findings.

A Case of Intrathoracic Meningocele

An intrathoracic meningocele is a saccular protrusion of the meninges through a normal or enlarged intervertebral foramen or bony defect of the thoracic vertebrae. It extends anteriorly between the ribs and into the thoracic cavity, displacing the pleura and lung and lying in the paravertebral gutter if of sufficient size. Meningocele, single or multiple, are prone to occur in cases of von Recklinghausen's neurofibromatosis, often in association with kyphoscoliosis. In this case, we found a case of intrathoracic meningocele associated with multiple lipoma of variable sizes in the back and hyperpigmentation in the anterior chest and upper back region but no evidence of neurofibromatosis. Because of rarity of this disease entity, we report a case of intrathoracic meninggocele with review of literature.