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
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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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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