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Tuberous Sclerosis (Bourneville Disease)

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Neurocutaneous Disorders

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Abstract

Tuberous sclerosis, or tuberous sclerosis complex (TSC), is an autosomal dominant inherited tumour suppressor disorder, which is associated with benign hamartomas and neoplastic lesions in the skin, the central nervous system and other organs. The first description and nomenclature of TSC are credited to Bourneville 1880, but von Recklinghausen was probably the first person to recognize the condition. A decade later and unaware of Bourneville’s documentation, Pringle (Brit J Derm 2:114, 1890) reported adenoma sebaceum as an inherited disorder of the skin (face) that also accompanied several other degenerative anomalies of the integument, such as naevi. The most common clinical symptoms are skin lesions, central nervous system manifestations, seizures (infantile spasms) and cellular overgrowth or hamartomas in the heart, brain, kidneys, eyes and lungs. The aetiology, genetics, signalling pathways, clinical characteristics and management options are described in this chapter.

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Authors and Affiliations

  1. The Ohio State University College of Medicine, Columbus, OH, USA

    Monica P. Islam

  2. Department of Paediatric Neurology and Developmental Neurology, Aristotle University of Thessaloniki, Thessaloniki, Greece

    Christos P. Panteliadis

  3. Tor Vergata University of Rome, Rome, Italy

    Paolo Curatolo

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  1. Monica P. Islam
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  2. Christos P. Panteliadis
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  3. Paolo Curatolo
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Correspondence to Christos P. Panteliadis .

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Editors and Affiliations

  1. Department of Paediatric Neurology and Developmental Neurology, Aristotle University of Thessaloniki, Thessaloniki, Greece

    Christos P. Panteliadis

  2. Department of Neurology, University of Washington, Seattle, WA, USA

    Ramsis Benjamin

  3. Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

    Christian Hagel

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Islam, M.P., Panteliadis, C.P., Curatolo, P. (2022). Tuberous Sclerosis (Bourneville Disease). In: Panteliadis, C.P., Benjamin, R., Hagel, C. (eds) Neurocutaneous Disorders. Springer, Cham. https://doi.org/10.1007/978-3-030-87893-1_27

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