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Diagnosis, management, and complications of glomus tumours of the digits in neurofibromatosis type 1
  1. Douglas R Stewart1,
  2. Jennifer L Sloan2,
  3. Lawrence Yao3,
  4. Andrew J Mannes4,
  5. Armin Moshyedi5,
  6. Chyi-Chia Richard Lee6,
  7. Raf Sciot7,
  8. Luc De Smet8,
  9. Victor-Felix Mautner9,
  10. Eric Legius10
  1. 1Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
  2. 2Genetic and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
  3. 3Department of Radiology, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA
  4. 4Department of Anaesthesia and Surgical Services, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA
  5. 5Clinical Center, National Institutes of Health, Bethesda, Maryland, USA
  6. 6Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA
  7. 7Department of Pathology, Catholic University Leuven, Leuven, Belgium
  8. 8Department of Orthopaedic Surgery, University Hospital Pellenberg, Lubbeek, Belgium
  9. 9Laboratory for Tumour Biology and Developmental Disorders, Department of Maxillofacial Surgery, University Hospital Eppendorf, Hamburg, Germany
  10. 10Department of Human Genetics, Catholic University Leuven, Leuven, Belgium
  1. Correspondence to Dr Douglas Stewart, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive, Building 49, Room 4A62, Bethesda, MD 20892, USA; drstewart{at}mail.nih.gov

Abstract

Background Glomus tumours are benign painful tumours of the glomus body, a thermoregulatory shunt in the digits. Glomus tumours of the fingers and toes are associated with the monogenic disorder neurofibromatosis type 1 (NF1) and are recently recognised as part of the NF1 phenotype.

Methods and Results A multi-institutional experience with 15 individuals with NF1 and glomus tumours of the fingers or toes is reported. The majority of individuals presented with at least two of the symptoms in the classic triad of localised tenderness, severe paroxysmal pain, and sensitivity to cold. Appearance of the nail and finger or toe is often normal. Women are affected more often than men. Multifocal tumours are common. There is often a delay in diagnosis of many years and clinical suspicion is key to diagnosis, although magnetic resonance imaging may be useful in some scenarios. Surgical extirpation can be curative; however, local tumour recurrence and metachronous tumours are common. Three of our patients developed signs and symptoms of the complex regional pain syndrome.

Conclusions Glomus tumours in NF1 are more common than previously recognised and NF1 patients should be specifically queried about fingertip or toe pain.

  • Neurofibromatosis type 1
  • glomus tumour
  • glomus body
  • fingertip
  • complex regional pain syndrome
  • diagnosis
  • clinical genetics
  • surgery

https://doi.org/10.1136/jmg.2009.073965

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    Footnotes

    • Funding The work was supported in part by the Division of Intramural Research of the National Human Genome Research Institute (DRS), research grants from the Fonds voor Wetenschappelijk Onderzoek Vlaanderen (G.0096.02, EL), the Interuniversity Attraction Poles granted by the Federal Office for Scientific, Technical and Cultural Affairs, Belgium (2007-2011; P5/25, EL), and by a Concerted Action Grant from the K.U. Leuven (EL, RS).

      The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products or organisations imply endorsement by the US Government.

    • Competing interests None.

    • Patient consent Obtained.

    • Ethics approval This study was conducted with the approval of the Institutional Review Board of the National Human Genome Research Institute.

    • Provenance and peer review Not commissioned; externally peer reviewed.