Abstract

CELIS-AMORTEGUI, Luz Marcela; ROMERO-HERNANDEZ, Camilo Andrés; HERNANDEZ-GORDILLO, Liliana Marcela  and  BOTERO-HERNANDEZ, Johana Andrea. von recklinghausen’s neurofibromatosis: presenting a case of vaginal neurofibroma and literature review. Rev Colomb Obstet Ginecol [online]. 2012, vol.63, n.2, pp.163-167. ISSN 0034-7434.

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.

Keywords : von Recklinghausen neurofibromatosis; vaginal tumour; café-au-lait spots.

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