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Pelvic plexiform neurofibromatosis presenting with genital numbness
  1. Lap Yan Leung1,
  2. Sachit Shah2,
  3. Jai Seth1,
  4. Mahreen Pakzad3,
  5. Shazia Afridi4,
  6. Jalesh N Panicker5
  1. 1 Department of Urology, St George's Hospital NHS Foundation Trust, London, UK
  2. 2 Department of Neuroradiology, University College London Hospitals NHS Foundation Trust National Hospital for Neurology and Neurosurgery, London, UK
  3. 3 Department of Uro-Neurology, University College London, Hospitals NHS Foundation Trust, National Hospital for Neurology, and Neurosurgery, London, UK
  4. 4 Department of Neurology, Guy’s and St Thomas’ NHS Trust, London, UK
  5. 5 Department of Uro-Neurology, The National Hospital for Neurology and Neurosurgery and University College London Queen Square Institute of Neurology, London, UK
  1. Correspondence to Dr Lap Yan Leung, St George's Hospital NHS Foundation Trust, London, UK; yan.leung{at}

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Neurofibromatosis type I is a common autosomal dominant inherited disorder of neural crest origin, affecting 1 in 3000 people.1 Plexiform neurofibromas, benign peripheral nerve sheath tumours, are considered pathognomonic of neurofibromatosis type I. Pelvic involvement is uncommon and is associated with considerable morbidity.1

A 29-year-old man reported 8 years of progressively increasing left hemiscrotal and gluteal swelling. He had noticed numbness over the penis and scrotum, difficulties with ejaculation and experiencing an orgasm, and perineal pain particularly when trying to ejaculate. He could achieve an erection and had preserved sexual drive, and no bladder or bowel symptoms. He took gabapentin and had never used serotonin-selective reuptake inhibitors. There was no family history of neurofibromatosis type I.

General examination was normal with no other cutaneous manifestations of neurofibromatosis type I, suggesting a …

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  • Contributors There were no outside contributors to this paper. We have no declarations to disclose.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Provenance and peer review Not commissioned. Externally peer reviewed by Ingrid Hoeritzauer, Edinburgh, UK.

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