Abstract
The neurocutaneous syndromes are a heterogeneous group of conditions affecting the nervous system and the skin, as well as other organ systems including the eyes, kidneys, and heart. This section discusses the most common inherited syndromes, neurofibromatosis and tuberous sclerosis. Diagnosis of these disorders is based on clinical criteria. Genetic testing may assist diagnosis and give information for family members. Genetic counseling is complicated by the frequent presence of de novo mutations, mosaicisms, and variable expression and severity. Additionally patients often experience stigma and discrimination, and may have psychiatric symptoms. All of these factors should be considered during counseling.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Jenterra, G., Synder, S. L., & Narayanan, V. (2006). Genetic aspects of neurocutaneous disorders. Seminars in Pediatric Neurology, 3(1), 43–47.
DeBella, K., Szudek, J., & Friedman, J. M. (2000). Use of the National Institutes of Health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics, 105(3), 608–615.
Boyd, K. P., Korf, B. R., & Theos, A. (2009). Neurofibromatosis type 1. Journal of the American Academy of Dermatology, 61(1), 1–14.
Sancak, O., Nellist, M., Goedbloed, M., Elfferich, P., Wouters, C., Maat-Kievit, A., et al. (2005). Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: Genotype–phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. European Journal of Human Genetics, 13(6), 731–741.
Vranceanu, A. M., Merker, V. L., Park, E., & Plotkin, S. R. (2013). Quality of life among adult with neurofibromatosis 1, neurofibromatosis 2 and schwannomatosis: A systematic review of the literature. Journal of Neuro-Oncology, 114(3), 257–262.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2015 Springer Science+Business Media New York
About this chapter
Cite this chapter
Bergner, A. (2015). Overview of Neurocutaneous Syndromes. In: Goldman, J. (eds) Genetic Counseling for Adult Neurogenetic Disease. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-7482-2_22
Download citation
DOI: https://doi.org/10.1007/978-1-4899-7482-2_22
Published:
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4899-7481-5
Online ISBN: 978-1-4899-7482-2
eBook Packages: Behavioral ScienceBehavioral Science and Psychology (R0)