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Patienter med basalcellenævussyndrom bør tilbydes tidlig interdisciplinær opfølgning og behandling

Forfatter(e)
Christiane Bay1, Lilian Bomme Ousager2, 3 & Anne Marie Jelsig2, 3 1) Dermatologisk Forskningsafdeling D92, Bispebjerg Hospital 2) Klinisk Genetisk Afdeling, Odense Universitetshospital 3) Klinisk Institut, Det Sundhedsviden skabelige Fakultet, Syddansk Universitet Ugeskr Læger 2015;177:V12140701
Reference: 
Ugeskr Læger 2015;177:V12140701
Blad nummer: 
Sidetal: 
2-6
Patients with basal cell naevus syndrome should be offered an early multidisciplinary follow-up and treatment
Basal cell naevus syndrome (Gorlin-Goltz syndrome) is a rare, autosomal dominantly inherited condition with a wide range of developmental and multiple organ-related anomalies. Cardinal features include multiple basal cell carcinomas, jaw cysts, palmoplantar pits and calcification of the falx cerebri. Other important clinical features are skeletal abnormalities and facial dysmorphism including macrocephaly. Germ line mutations are found in PTCH1. Management of the syndrome requires a multidisciplinary approach, and in this article management guidelines are reviewed and discussed.
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