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.