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Tuberøs sklerose

Sist oppdatert: Sist revidert:
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Definisjon:
Dannelse av multiple, godartede svulster forårsaket av mutasjoner i TSC1 og/ eller TSC2 genene. Arvelig dominant arvegang, men ca 65% av tilfellene skyldes spontanmutasjoner
Forekomst:
Insidens 1 pr. 6000 levendefødte
Symptomer:
Svært variabel fenotype. Hud og CNS er nesten alltid involvert. Epilepsi er vanlig. Mental retardasjon ses hos ca. 50%
Funn:
Karakteristiske funn i hud inkluderer hypopigmenterte områder, angiofibromer og fibrøst plakk i panne
Diagnostikk:
Det finnes ingen enkeltstående test for å stille diagnosen. Genetiske analyser benyttes. MR av sentralnervesystemet, ultralyd av nyrer, ekko doppler undersøkelse av hjertet
Behandling:
Støttende. Ofte epilepsibehandling, kirurgi kan være aktuelt for å fjerne tumorvev
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  23. Koenig MK, Bell CS, Hebert AA, et al. Efficacy and Safety of Topical Rapamycin in Patients With Facial Angiofibromas Secondary to Tuberous Sclerosis Complex The TREATMENT Randomized Clinical Trial. JAMA Dermatol 2018. doi:10.1001/jamadermatol.2018.0464 DOI  
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  • Terje Johannessen, professor i allmennmedisin, Trondheim

Tidligere fagmedarbeidere

  • Kurt Østhuus Krogh, spesialist i barnesykdommer
  • Bjørnar Grenne, PhD, konst. overlege, Klinikk for hjertemedisin, St. Olavs Hospital, Trondheim