Patienter med basalcellenaevussyndrom bör tilbydes tidlig interdisciplinaer opfölgning og behandling
Engelsk titel: Patients with basal cell naevus syndrome should be offered an early multidisciplinary follow-up and treatment
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Författare:
Bay, Christiane
;
Ousager, Lilian Bomme
;
Jelsig, Anne Marie
Email: christiane.marie.bay@regionh.dk
Språk: Dan
Antal referenser: 30
Dokumenttyp:
Översikt
UI-nummer: 16057421
Sammanfattning
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.