| Popis: |
Nevoid basal cell carcinoma syndrome (Gorlin syndrome) is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. The syndrome is caused by mutations in patched (PTCH), a tumor suppressor gene that has been mapped to chromosome 9q22.3-q31. Gorlin-goltz syndrome (GGS) is characterised by the presence of multiple odontogenic keratocysts in the jaws, basal cell carcinomas, palmar and plantar pits and intracranial calcifications. Here, we present a case of familial GGS, characterised by multiple odontogenic keratocysts, broad nasal ridge, hypertelorism, enlarged head circumference and dermoid cysts. |
