Abstract

Background:

The perineal presentation of plexiform neurofibroma is exceptional, with only two cases reported to date.

Case report:

We present an 8-year-old African male with a large perineal tumor of years of evolution. He had no associated symptoms. Café au lait stains were observed on examination, without other findings of relevance. The patient had no preoperative radiological studies. Partial excision of the lesion was performed. Histopathological study of the specimen revealed a plexiform neurofibroma.

Discussion:

The lack of diagnostic suspicion due to the atypical nature of the location, the anatomical complexity of surgical resection and the potential urological and rectal involvement make this lesion a diagnostic-therapeutic challenge. Among the differential diagnoses, schwannoma, congenital lipoma, hamartoma and lipoblastoma should be considered.

中文翻译：

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8 岁非洲男性巨大会阴丛状神经纤维瘤

摘要

背景：

会阴部丛状神经纤维瘤的表现非常特殊，迄今为止仅报道了两例。

案例报告：

我们介绍了一名 8 岁的非洲男性，他患有多年演变的大型会阴肿瘤。他没有相关症状。检查时观察到牛奶咖啡渍，但没有其他相关发现。患者没有进行术前放射学研究。对病灶进行了部分切除。标本的组织病理学研究显示为丛状神经纤维瘤。

讨论：

由于位置的非典型性、手术切除的解剖学复杂性以及潜在的泌尿系统和直肠受累而缺乏诊断怀疑，使该病变成为诊断和治疗的挑战。在鉴别诊断中，应考虑神经鞘瘤、先天性脂肪瘤、错构瘤和脂肪母细胞瘤。