Morbus Bourneville: a case report and review of the literature.
Tuberous sclerosis (TS) or tuberous sclerosis complex (TSC), also known as Bourneville disease or Bourneville-Pringle disease, is an autosomal dominant disorder classically characterized by the presence of hamartomatous growths in multiple organs. A combination of symptoms may include seizures, developmental delay, behavioral problems, skin abnormalities, and lung and kidney diseases. The authors present a case of a 18 year-old female patient with a history of TS, epileptic episodes, mental retardation, and papillary formations in multiple organs located at the abdominal, axillary, cervical, facial, and genital region.
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Sofoudis
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Kalampokas
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Boutas
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Kalampokas
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Salakos
D000293:Adolescent; D018322:Angiofibroma / Q000209:etiology / Q000601:surgery; D005260:Female; D006801:Humans; D014402:Tuberous Sclerosis / Q000150:complications / Q000175:diagnosis* / Q000601:surgery; D014846:Vulvar Neoplasms / Q000209:etiology / Q000601:surgery