Introduction
Gorlin-Goltz syndrome (GGS) was first reported by Gorlin and Goltz in 19601). Developmental abnormalities include rib malformations; skin pits; macrocephaly; and tumorigenesis, including basal cell carcinomas; and odontogenic keratocysts. GGS is an autosomal dominant-inherited disorder caused by a mutation in the PTCH1gene, which encodes membrane type receptor PTCH1 of the inhibitory of sonic hedgehog (SHH; a secretion type membrane protein)2,3).
The development of a second cancer is a serious late complication of childhood cancer treatment. Recent advances in genetic analysis have revealed that cancer predisposition syndrome with pathological variants in the germline occurs among individuals who develop second cancers4). Setting a therapeutic strategy in consideration of second cancer development is important for pediatric cancer patients who have a background predisposition toward cancer. This report presents a case of GGS without physical features that was diagnosed after the development of a fifth cancer at the age of 19 years.