State Key Laboratory of Oral Diseases, National Center for Stomatology, National Clinical Research Center for Oral Diseases, Research Unit of Oral Carcinogenesis and Management, Chinese Academy of Medical Sciences, West China Hospital of Stomatology, Sichuan University, Chengdu, Sichuan, China.
State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration, National Clinical Research Center for Oral Diseases, Shaanxi Clinical Research Center for Oral Diseases, Department of Pediatric Dentistry, School of Stomatology, The Fourth Military Medical University, Shanxi, Xi'an, China.
BMJ Case Rep. 2023 Dec 28;16(12):e258133. doi: 10.1136/bcr-2023-258133.
This case report presents a young girl in her early childhood diagnosed with chronic mucocutaneous candidiasis (CMC) and primary hypothyroidism. Genetic analysis revealed a novel de novo mutation in the gene (exon 11, c.972C>G, p.Cys324Trp), adding to the existing literature on mutations, which account for approximately 53% of CMC cases. The identified mutation is predicted to have a more severe pathogenic impact based on PolyPhen-2 scoring. Our findings emphasise the importance of comprehensive genetic testing in CMC diagnosis and suggest that the specific mutation site may correlate with disease prognosis. The case underscores the need for vigilant monitoring and targeted therapeutic interventions, given the potential for poorer outcomes.
本病例报告介绍了一位幼儿期慢性黏膜皮肤念珠菌病（CMC）和原发性甲状腺功能减退症患者。基因分析显示，在 基因（exon 11，c.972C>G，p.Cys324Trp）中发现了一个新的从头突变，这增加了关于 突变的现有文献， 突变约占 CMC 病例的 53%。基于 PolyPhen-2 评分，该鉴定出的突变被预测具有更严重的致病性影响。我们的研究结果强调了在 CMC 诊断中进行全面基因检测的重要性，并表明特定的突变位点可能与疾病预后相关。鉴于可能出现较差的结果，该病例强调了需要进行严密监测和靶向治疗干预。
