• Douglas R Stewart, Jennifer L Sloan, Lawrence Yao, Andrew J Mannes, Armin Moshyedi, Chyi-Chia Richard Lee, Raf Sciot, Luc De Smet, Victor-Felix Mautner, and Eric Legius.
• 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@mail.nih.gov
• J. Med. Genet. 2010 Aug 1; 47 (8): 525-32.

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

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