RESUMO
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.
Assuntos
Síndrome do Nevo Basocelular/diagnóstico , Arcada Osseodentária/diagnóstico por imagem , Adolescente , Anodontia/diagnóstico por imagem , Anodontia/etiologia , Síndrome do Nevo Basocelular/complicações , Síndrome do Nevo Basocelular/genética , Criança , Pré-Escolar , Estudos de Coortes , República Tcheca , Diagnóstico Precoce , Feminino , Duplicação Gênica , Humanos , Imageamento Tridimensional , Lactente , Masculino , Cistos Odontogênicos/diagnóstico por imagem , Cistos Odontogênicos/etiologia , Parestesia/etiologia , Receptor Patched-1/genética , Guias de Prática Clínica como Assunto , Radiografia Panorâmica , Estudos Retrospectivos , Análise de Sequência de DNA , Tomografia Computadorizada por Raios XRESUMO
Amelogenesis imperfecta (AI) is an overarching term for a group of rare inherited disorders of hard tooth tissues. It is characterized by various defects in proper enamel formation. AI is a severe disorder that affects both the aesthetics and function of the dentition, with affected teeth increasingly suffering from dental caries. Therefore, early diagnosis and lifelong stomatological interventions are important. Due to the complex nature of AI family history, stomatological, radiographic, and molecular genetic examinations should be part of the diagnostic portfolio. Additionally, we utilized new visualization methods for the assessment of teeth demineralization. We present a case report of two affected Czech sisters (6 and 8 years old) with clinically defined AI. These are the first Czech cases in which comprehensive clinical and genetic analysis had been carried out and reflect the complex clinical nature, positive treatment options, and limitations of candidate-gene molecular genetic testing.