title: [Manifestation of tuberous sclerosis in the ENT area].
abstract: Tuberous sclerosis (Bourneville-Pringle's disease) is a rare, largely autosomal dominant neurocutaneous disease. The disease can also result from spontaneous mutations. Although strongly variable in its manifestation, manifestations are typically characterized by involvement of the central nervous system (early childhood seizures), skin (facial angiofibromas) and kidneys (angiomyolipomas). In the case described, a 67-year-old female patient complained exclusively of obstructed nasal breathing that was found to be due to angiofibromas in the nasal vestibule. Oral fibromas were asymptomatic, while fibromas in the facial region resulted in some cosmetic changes. This exclusively ENT manifestation of a patient with tuberous sclerosis has not been described previously. As treatment, the fibromas were ablated by an Nd:YAG laser under local anesthesia. Other therapeutic options are described. Additional clarification of all organ manifestations is advisable in view of numerous possible pathologies present. Genetic consultation is also recommended, particularly for patients with an oligosymptomatic variant.
authors.affiliation: Universitäts-HNO-Klinik, Klinikum Benjamin Franklin der Freien Universität Berlin.
authors.forename: K
authors.initials: K
authors.lastname: Helling
authors.forename: T
authors.initials: T
authors.lastname: Flöttmann
authors.forename: A
authors.initials: A
authors.lastname: Schmitt-Gräff
authors.forename: H
authors.initials: H
authors.lastname: Scherer
mesh_terms: D000368:Aged; D018322:Angiofibroma / Q000235:genetics / Q000473:pathology / Q000601:surgery; D002455:Cell Division / Q000502:physiology; D002471:Cell Transformation, Neoplastic / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D009297:Nasal Mucosa / Q000473:pathology; D009669:Nose Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D010038:Otorhinolaryngologic Diseases / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D010039:Otorhinolaryngologic Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D011230:Precancerous Conditions / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D014402:Tuberous Sclerosis / Q000235:genetics* / Q000473:pathology / Q000601:surgery
vernacular_title: Manifestation einer tuberösen Sklerose im HNO-Bereich.