The Neurofibromatoses: Differential Diagnosis and Rare Subtypes

  • Susan M. Huson


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.


Noonan Syndrome Vestibular Schwannomas Plexiform Neurofibroma Peripheral Nerve Lesion Congenital Melanocytic Nevus 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



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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© Springer-Verlag London Limited 2011

Authors and Affiliations

  • Susan M. Huson
    • 1
  1. 1.Manchester Academic Health Science CentreSaint Mary’s HospitalManchesterUK

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