Backwards Screening for Gorlin-Goltz syndrome – Does It Make Sense? - A Family Case Report

Abstract

Introduction:The Gorlin-Goltz syndrome (GGS) is an autosomal dominant disorder characterized by kerato cystic odontogenic tumors (KCOT) in the jaws, multiple basal cell carcinomas and skeletal and ophthalmic abnormities. It also involved in the nervousand the endocrine system. The prevalence differs from 1:50,000 to 1:150,000. GGS and KCOT do not only appear in an inherited way but also sporadically following mutation of the tumor suppressor gene on chromosome 9 (PTCH1 or PTCH2 gene). Aim:The presented two cases are describing the complex interdisciplinary treatment of a male adolescent patient suffering from GGS and his mother. Initially the mother, who passed the spontaneous new mutation of the PTCH1 gene to her son, was considered as a carrier without any clinical gene expression. After 10 years she also showed KCOTs. It seems that spontaneous mutations, e.g. the mother, have a late-onset of keratocyst formation compared to autosomal-dominant subsequent generations, which are already conspicuous in adolescence.Discussion: The subsequent generation seems to be clinically much more conspicuous in cases of a new mutation of PTCH1 in the parents. That leads to the question, whether it might be useful to derive an indication for a close recall of the until then symptom-free parent generation in the course of a backward screening from a detected GGS case in a juvenile. In the present case, the mother of the boy was only "co-screened" during the active therapy phase of her child in the years 2006-2010, without showing any clinically noticeable findings. Afterwards she was released from the regular recall. The keratocysts discovered 10 years later in the maxillary sinus and the left mandible could have been detected much earlier and treated accordingly, if a close examination had been performed.Clinical relevance: This case documentation show in line with other publications that early diagnosis of a GGS is important -and not only for the treatment of the affected generation. Rather, the early diagnosis of a CGS in a child or adolescent can also lead to an essential therapy for a parent, who has been clinically inconspicuous until then.