title: 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.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  METHODS
  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.
authors.affiliation: Department of Stomatology, Charles University 2nd Faculty of Medicine and University Hospital in Motol, Prague, Czech Republic.
authors.forename: Milan
authors.initials: M
authors.lastname: Hubacek
authors.affiliation: Department of Stomatology, Charles University 2nd Faculty of Medicine and University Hospital in Motol, Prague, Czech Republic.
authors.forename: Tereza
authors.initials: T
authors.lastname: Kripnerova
authors.affiliation: Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital in Motol, Prague, Czech Republic.
authors.forename: Michaela
authors.initials: M
authors.lastname: Nemcikova
authors.affiliation: Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital in Motol, Prague, Czech Republic.
authors.forename: Anna
authors.initials: A
authors.lastname: Krepelová
authors.affiliation: Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital in Motol, Prague, Czech Republic.
authors.forename: Alena
authors.initials: A
authors.lastname: Puchmajerova
authors.affiliation: Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital in Motol, Prague, Czech Republic.
authors.forename: Marcela
authors.initials: M
authors.lastname: Malikova
authors.affiliation: Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital in Motol, Prague, Czech Republic.
authors.forename: Markéta
authors.initials: M
authors.lastname: Havlovicová
authors.affiliation: Department of Dermatology, Charles University 2nd Faculty of Medicine and University Hospital in Motol, Prague, Czech Republic.
authors.forename: Jana
authors.initials: J
authors.lastname: Cadova
authors.affiliation: Department of Pathology and Molecular Medicine, Charles University 2nd Faculty of Medicine and University Hospital in Motol, Prague, Czech Republic.
authors.forename: Roman
authors.initials: R
authors.lastname: Kodet
authors.affiliation: Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital in Motol, Prague, Czech Republic.
authors.forename: Milan
authors.initials: M
authors.lastname: Macek
authors.affiliation: Department of Stomatology, Charles University 2nd Faculty of Medicine and University Hospital in Motol, Prague, Czech Republic.
authors.forename: Tatjana
authors.initials: T
authors.lastname: Dostalova
mesh_terms: D000293:Adolescent; D000848:Anodontia / Q000000981:diagnostic imaging / Q000209:etiology; D001478:Basal Cell Nevus Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D018153:Czech Republic; D042241:Early Diagnosis; D005260:Female; D020440:Gene Duplication; D006801:Humans; D021621:Imaging, Three-Dimensional; D007223:Infant; D007568:Jaw / Q000000981:diagnostic imaging*; D008297:Male; D009807:Odontogenic Cysts / Q000000981:diagnostic imaging / Q000209:etiology; D010292:Paresthesia / Q000209:etiology; D000072081:Patched-1 Receptor / Q000235:genetics; D017410:Practice Guidelines as Topic; D011862:Radiography, Panoramic; D012189:Retrospective Studies; D017422:Sequence Analysis, DNA; D014057:Tomography, X-Ray Computed
chemical_list: C000606236:PTCH1 protein, human; D000072081:Patched-1 Receptor