Hubacek Milan, Kripnerova Tereza, Nemcikova Michaela, Krepelová Anna, Puchmajerova Alena, Malikova Marcela, Havlovicová Markéta, Cadova Jana, Kodet Roman, Macek Milan, Dostalova Tatjana
Department of Stomatology, Charles University 2nd Faculty of Medicine and University Hospital in Motol, Prague, Czech Republic.
Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital in Motol, Prague, Czech Republic.
Neuro Endocrinol Lett. 2016 Sep;37(4):269-276.
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.
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.
Clinical, imaging and laboratory analyses were carried out at a national tertiary centre.
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.
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.
在口腔和神经科实践中识别基底细胞痣综合征（BCNS；同义词戈林-戈尔茨综合征）的早期表现体征，该综合征与多发性基底细胞痣、颌骨牙源性角化囊肿和骨骼异常这一主要三联征相关。根据研究结果提出包含其他医学专家（包括病理学、影像学、实验室和分子分析）的多学科诊断算法。
一名男性患者报告下颌感觉异常，伴有右侧面部不对称（上颌和下颌），影像学检查发现双侧颌骨有大的溶骨性病变的病例报告，以及对过去十年内捷克一个有代表性的BCNS队列进行回顾性分析。
在一家国家级三级中心进行临床、影像学和实验室分析。
采用多学科临床方法并随后进行手术治疗，发现了牙源性囊肿，组织学检查证实了这一发现。PTCH1基因的DNA测序检测到一个c.2929dupT变异，导致p.Tyr977Leufs*16致病性变体。这一发现证实了BCNS的临床和实验室诊断。对父母的DNA分析表明，这种致病基因缺陷是新发的。手术治疗和正畸治疗取得了成功。
对该病例报告的分析和回顾性数据分析提供了证据，表明在下颌感觉异常应被视为这种罕见疾病在口腔和神经科实践中的早期表现体征之一。所获得结果使我们能够为口腔和神经科的诊断实践制定建议。
