Tuberous sclerosis

	Tuberous sclerosis Microchapters
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	Tuberous sclerosis;
	Earliest illustration, from Rayer's atlas of skin diseases, 1835.

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Raviteja Guddeti, M.B.B.S. [2]

Synonyms and keywords: Tuberous sclerosis complex, TSC, Bourneville disease, Bourneville-Pringle syndrome, epiloia

Overview

Historical Perspective

Pathophysiology

Differentiating Tuberous sclerosis from other Diseases

Epidemiology and Demographics

Screening

Natural History, Complications and Prognosis

Diagnosis

Treatment

Medical Therapy | Surgery | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case #1

v • d • e Phakomatoses and other congenital malformations not elsewhere classified (Q85-Q89, 759)
Phakomatoses	Abdallat Davis Farrage syndrome - Ataxia telangiectasia - Incontinentia pigmenti - Neurofibromatosis (type I, type II) - Peutz-Jeghers syndrome - Sturge-Weber syndrome - Tuberous sclerosis - Von Hippel-Lindau disease
Due to known exogenous causes	Fetal alcohol syndrome - Phocomelia (via Thalidomide)
Affecting multiple systems	facial (Mobius syndrome, Goldenhar syndrome, Cyclopia, Apert syndrome) short stature (Aarskog-Scott syndrome, Cockayne syndrome, Cornelia de Lange Syndrome, Dubowitz syndrome, Noonan syndrome, Robinow syndrome, Silver-Russell dwarfism, Seckel syndrome, Smith-Lemli-Opitz syndrome) limbs (Adducted thumb syndrome, Holt-Oram syndrome, Klippel-Trenaunay-Weber syndrome, Nail-patella syndrome, Rubinstein-Taybi syndrome, Sirenomelia, VACTERL association) overgrowth (Beckwith-Wiedemann syndrome, Sotos syndrome, Weaver syndrome) combined/other Ablepharon macrostomia syndrome - Alport syndrome - Bardet-Biedl syndrome - Branchio-oto-renal syndrome - Donohue syndrome - Fraser syndrome - Keutel syndrome - Marfan syndrome - Timothy syndrome - Urban-Rogers-Meyer syndrome - Vici syndrome - Yunis-Varon syndrome - Zellweger syndrome - Zimmerman-Laband syndrome - Zori Stalker Williams syndrome
Other	spleen: Asplenia - Splenomegaly endocrine glands: Persistent thyroglossal duct - Thyroglossal cyst Conjoined twins - Cowden syndrome - Hamartoma - Impossible syndrome - Situs inversus

Tuberous sclerosis

Overview

Historical Perspective

Pathophysiology

Differentiating Tuberous sclerosis from other Diseases

Epidemiology and Demographics

Screening

Natural History, Complications and Prognosis

Diagnosis

Treatment

Case Studies

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Tuberous sclerosis
Earliest illustration, from Rayer's atlas of skin diseases, 1835.