Article Text

Download PDFPDF
A clinical study of patients with multiple isolated neurofibromas
  1. Patricia Blakley*,a,
  2. David N Louisb,
  3. M Priscilla Short,c,
  4. Mia MacCollinc
  1. aGenetics and Teratology Unit, Massachusetts General Hospital, Boston, MA, USA, bDepartments of Pathology and Neurosurgery, Massachusetts General Hospital, Boston, MA, USA, cDepartment of Neurology, Massachusetts General Hospital, Boston, MA, USA
  1. Dr MacCollin, Neuroscience Center, MGH-East Building 149, 13th Street, Charlestown, MA 02129, USA, maccollin{at}

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Editor—Neurofibromas are benign nerve sheath tumours of a heterogeneous nature consisting of Schwann cells, fibroblastic elements, and embedded axons. Neurofibromas may occur singly in genetically normal people at any point along the peripheral nervous system. Multiple neurofibromas are nearly pathognomonic for neurofibromatosis 1 (NF1). In patients with NF1, neurofibromas may be congenital and plexiform or, more commonly, may be smaller masses that begin to accumulate around the time of puberty. Cutaneous and subcutaneous neurofibromas may cause considerable cosmetic disfigurement, but rarely result in neurological dysfunction. Conversely, deep seated neurofibromas on peripheral nerves and spinal roots frequently lead to neurological disability. Inevitably, adult patients with NF1 have other stigmata of the disorder with the most common being café au lait spots, skin fold freckling, and Lisch nodules.1 2 NF1 is an autosomal dominant disorder with full penetrance and a defined genetic aetiology that shows no evidence of locus heterogeneity.3Neurofibromatosis 2 patients are rarely found to have one or more neurofibromas.4 5

Recently, we have become aware of a small number of patients with multiple pathologically proven neurofibromas, who have no other stigmata of NF1. Here we report the clinical characteristics and pathological findings of these patients, and propose the terminology “multiple isolated neurofibromas” to describe this rare condition.

Material and methods

The criteria for inclusion in the study were multiple, pathologically proven neurofibromas without other defining features of NF1. Careful family histories were obtained in order to document other family members potentially affected, extending to all second degree relatives. Each participant underwent a clinical examination by one or more of the authors (PB, MM, MPS), which included a detailed neurological evaluation and inspection of the skin with a Wood's lamp. For patients who gave a positive family history, medical records from the potentially affected family member and tumour specimens …

View Full Text


  • * Present address: Department of Pediatrics, University of Saskatchewan and Kinsmen Children's Centre, Saskatoon, Saskatchewan, Canada

  • Present address: Department of Pediatric Neurosurgery, University of Chicago, Chicago, Illinois USA