Aim: To identify a gene linking microphthalmia with cyst with early onset medulloblastoma. Methods: Mutation analysis of the PTCH gene. Results: A mutation in exon 10 of the PTCH gene was identified, confirming a diagnosis of Gorlin syndrome. Conclusions: This is the first genetically identified mutation giving rise to microphthalmia with cyst and provides a valuable link in the eye development...

Address for correspondence: Prof. Henryk Witmanowski MD, PhD, Department of Plastic, Reconstructive and Aesthetic Surgery, Medical College, Nicolaus Copernicus University, 9-11 M. Skłodowska-Curie St, 85-094 Bydgoszcz, phone: +48 52 585 4017, email: [email protected] Received: 21.06.2016, accepted: 2.08.2016. Basal cell nevus syndrome (Gorlin-Goltz syndrome): genetic predisposition, clinical picture...

Calcifying odontogenic cyst is a developmental odontogenic cyst first described by Gorlin in 1962. It is considered as an extremely rare condition and shows extensive diversity in its clinicopathological appearances and biologic behavior. In this report a rare case of calcifying odontogenic cyst with ameloblastic proliferation (an extremely rare histologic variant) with one year follow – up is ...