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  • Title: [Patients with basal cell naevus syndrome should be offered an early multidisciplinary follow-up and treatment].
    Author: Bay C, Ousager LB, Jelsig AM.
    Journal: Ugeskr Laeger; 2015 Jul 13; 177(29):. PubMed ID: 26239960.
    Abstract:
    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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