TY - JOUR
AR - GG-2020-1-106
TI - Late-Onset of Keratocysts in De Novo Mutation c.1347+1G>A on Intron 9 PTCH1- (NBCCS) – Diagnosis and Therapy
AU - Manfred, Nilius
AU - Minou , Nilius
AU - Charlotte , Mueller
AU - Guenter , Lauer
JO - Genetics and Genomics
PY - 2020
DA - Wed 30, Dec 2020
SN - 
DO - http://dx.doi.org/10.31487/j.GG.2020.01.06
UR - https://www.sciencerepository.org/late-onset-of-keratocysts-in-de-novo-mutation-c13471ga-on-intron_GG-2020-1-106 
KW -  Gorlin syndrome, basal cell nevus syndrome, falx cerebral calcification, keratocystic odontogenic tumor, PTCH1
AB - Introduction: The occurrence of two main symptoms (calcification of the falx cerebri, odontogenic
keratocysts, basal cell carcinoma) and a minimum of one secondary symptom is necessary for de-novo
diagnosing a Basal Cell Nevus Syndrome (BCNS). Late diagnosing is usual if the primary symptoms are
absent. Subtypes of BCNS may express phenotypes at different ages. Early recognition is needed. The
adhesion of keratocysts to the basal bone layer varies, so different treatment options are standard.
Aim: A 47-year-old woman without clinical signs of BCNS except macrocephaly suffered from de-novomutation of the PTCH1 gene. Odontogenic keratocysts were recognized sporadically by CB-CT ten years
later, as late-onset; Compared to subsequent generations, who often present the main symptoms in
childhood. The indication of resection, marsupialization, or enucleation with or without Carnoy-solution is
a clinical decision.
Conclusion: Despite 100% penetrance, intrafamilial expression of the clinical phenomenon is variable. In
child morbidity, the parents’ lifelong co-screening should be mandatory by radiological and clinical
investigation. Late-onset KCOT should be resected en-bloc, including soft tissue movement. Enucleation
has less morbidity for mandibular keratocysts near the nerve. Carnoy-solution helps minimize the risk of
relapse.