2016; 37(4): 269-276
PubMed PMID: 27857042
Adolescent, Anodontia:diagnostic imaging, Basal Cell Nevus Syndrome:complications, Child, Child, Preschool, Cohort Studies, Czech Republic, Early Diagnosis, Female, Gene Duplication, Humans, Imaging, Three-Dimensional, Infant, Jaw:diagnostic imaging, Male.
, Kripnerova T
, Nemcikova M
, Krepelová A
, Puchmajerova A
, Malikova M
, Havlovicová M
, Cadova J
, Kodet R
, Macek M
, Dostalova T
OBJECTIVES: Identification of early presenting signs of the Basal Cell Nevus (BCNS; synonyme Gorlin-Goltz) syndrome, which is associated with a principal triad of multiple basal cell nevi, jaw odontogenic keratocysts, and skeletal anomalies, in stomatological and neurological practices. Proposal of multidisciplinary diagnostic algorithm comprising other medical specialists, including pathology, imaging, laboratory and molecular analyses based on the study outcomes.
DESIGN: Case report of a male patient reporting paresthesia of their lower jaw, with right facial asymmetry (maxilla and mandible) and radiological detection of large osteolytic lesions in both jaws, including a retrospective analysis of a representative Czech cohort with BCNS from within the last decade.
SETTING: Clinical, imaging and laboratory analyses were carried out at a national tertiary centre.
RESULTS: A multidisciplinary clinical approach followed by surgical management lead to the identification of odontogenic cysts, which were substantiated by histological examination. DNA sequencing of the PTCH1 gene detected a c.2929dupT resulting in p. Tyr977Leufs*16 pathogenic variant. This finding confirmed the clinical and laboraoty diagnosis of BCNS. Parental DNA analysis showed that this causal genetic defect arose de novo. Surgical management and orthodontic therapy were successful.
CONCLUSIONS: Analysis of the reported case and retrospective data analysis provided evidence that paresthesia of the lower jaw should be considered as one of the early presenting signs of this rare disorder in stomatological and neurological practice. Obtained results allowed us to formulate recommendations for diagnostic practice in stomatology and neurology....