Odontogenic keratocysts in the Basal Cell Nevus (Gorlin-Goltz) Syndrome associated with paresthesia of the lower jaw: Case report, retrospective analysis of a representative Czech cohort and recommendations for the early diagnosis.

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.

3D reconstruction of TMJ after resection of the cyst and the stress-strain analyses.

The aim of this article is 3D analysis of the temporomandibular joint (TMJ) patient, who underwent surgery, during which the right TMJ was resected along with the ramus of mandible and consequently the joint was reconstructed with subtotal replacement. The main goal is to give a suitable formulation of mathematical model, which describes the changes of stresses in TMJ incurred after the surgery. The TMJ is a complex, sensitive and highly mobile joint which works bilaterally so each side influences the contralateral joint and because of this the distribution of the stresses is changed in the healthy joint as well. Detailed knowledge about function these are necessary for clinical application of temporomandibular joint prosthesis and also help us estimate the lifetime of the prosthesis a possibilities of alteration in the contra lateral joint components. The geometry for the 3D models is taken from the CT scan date and its numerical solution is based on the theory of semi-coercive unilateral contact problems in linear elasticity. This article provides medical part with case report, discretion of treatment, than the methods of mathematical modeling and his possibilities are described and finally results are reported.