VHT Yick, HM Luk

Abstract

Gorlin syndrome (GS) is a rare, clinically and genetically heterogeneous autosomal dominant disorder primarily characterised by early onset of odontogenic keratocysts, multiple basal cell carcinomas and palmar or plantar pits. Two genetic mutations, namely PTCH1 and SUFU, have been described to be the culprit of such syndrome. PTCH1 and SUFU, as the two groups of GS, have different underlying mechanism and clinical presentation. In particular, the SUFU gene mutation is associated with higher risk of developing infantile medulloblastoma and jaw cysts. However, individuals presenting with an infantile medulloblastoma are mostly presumed to be sporadic. Here we have reported the first case of SUFU related Gorlin syndrome presenting with infantile medulloblastoma in Hong Kong. The clinical phenotype and underlying mechanism have also been discussed.