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Tuberous Sclerosis: Dermatological Features

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Atlas of Dermatological Manifestations of Gastrointestinal Disease

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Abstract

Clinical signs and features include:

Neurocutaneous syndrome: variable phenotype characterized by the development of multiple hamartomas throughout the body

Classically presents with seizures, mental retardation, facial angiofibromas (this triad is found in only 29 % of cases)

Incidence is about 1:6,000–1:10,000, although it is hard to calculate as individuals with mild or asymptomatic disease may never be diagnosed

Manifests in the brain (cortical tubers, subendymal nodules, and giant cell astrocytomas leading to seizures and mental retardation), kidney (angiomyolipoma), lung (lymphangiomyomatosis), heart (rhabdomyoma), and eyes (retinal hamartomas)

Cutaneous features are present in nearly 100 % of patients and include:

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Reference

  1. Schwartz RA, Fernandez G, Kotulska K, Jozwiak S. Tuberous sclerosis complex: advances in diagnosis, genetics, and management. J Am Acad Dermatol. 2007;57:189–202.

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Authors and Affiliations

  1. Yale Department of Internal Medicine, Yale New Haven Hospital, 20 York Street, New Haven, CT, 06510, USA

    Liam Zakko

  2. Department of Dermatology, University of Connecticut Health Center, 21 South Road, Farmington, CT, 06030, USA

    Justin Finch, Marti J. Rothe & Jane M. Grant-Kels

Authors
  1. Liam Zakko
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  2. Justin Finch
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  3. Marti J. Rothe
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  4. Jane M. Grant-Kels
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Corresponding author

Correspondence to Liam Zakko .

Editor information

Editors and Affiliations

  1. Department of Medicine, Gastroenterology Division,, University of Connecticut Health Center, 263 Farmington Ave., Farmington, 06030, Connecticut, USA

    George Y. Wu

  2. , Department of Medicine, University of Connecticut, 56 Kingswood Road, West Hartford, 06119, Connecticut, USA

    Nathan Selsky

  3. , Univ. of CT Health Ctr, Dermatol. Dept., University of Connecticut, 21 South Road, Farmington, 06032, Connecticut, USA

    Jane M. Grant-Kels

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Zakko, L., Finch, J., Rothe, M.J., Grant-Kels, J.M. (2013). Tuberous Sclerosis: Dermatological Features. In: Wu, G., Selsky, N., Grant-Kels, J. (eds) Atlas of Dermatological Manifestations of Gastrointestinal Disease. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6191-3_46

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  • DOI: https://doi.org/10.1007/978-1-4614-6191-3_46

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4614-6190-6

  • Online ISBN: 978-1-4614-6191-3

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