Giant Perineal Plexiform Neurofibroma in an 8-Year-Old African Male

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.

Keywords:

• Plexiform neurofibroma
• African
• perineal
• scrotal
• pediatric

Conflict of interest disclosuses

There is no conflict of interest or external funding to declare. None of the authors have anything to disclose

Funding/support

There is no external funding to declare.

Contributors’ statement page

Dr. Javier Arredondo Montero and Dr. Monica Bronte Anaut conceptualized and designed the study, drafted the initial manuscript, and reviewed and revised the manuscript

Dr. Carlos Bardají Pascual conceptualized and designed the study, coordinated, and supervised data collection, and critically reviewed the manuscript for important intellectual content.

Original work

All authors of the manuscript declare that it is an original contribution, not previously published, and that at the present time it has not been sent to any other journal to assess its publication.