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The Neurofibromatoses: Differential Diagnosis and Rare Subtypes

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Neurofibromatoses in Clinical Practice

Abstract

Accurate diagnosis of the type of neurofibromatosis is ­important for patient management and genetic counseling. In the majority of people with neurofibromatosis type one (NF1) and type two (NF2), the diagnosis is straightforward. In a ­specialist neurofibromatosis clinic, approximately 2% of new NF1 referrals will have an alternate non-NF diagnosis and 5% will have a specific NF subtype. This chapter reviews the differential diagnosis of and conditions related to NF1 and NF2.

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Acknowledgments

I am grateful to Dr. Rick Whitehouse for providing Fig. 3.5, Dr. Emma Burkitt Wright for Fig. 3.6, and to the patients who have allowed me to use their pictures and clinical histories.

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  1. Manchester Academic Health Science Centre, Saint Mary’s Hospital, Manchester, UK

    Susan M. Huson (Consultant Clinical Geneticist)

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Huson, S.M. (2011). The Neurofibromatoses: Differential Diagnosis and Rare Subtypes. In: Neurofibromatoses in Clinical Practice. Springer, London. https://doi.org/10.1007/978-0-85729-629-0_3

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