Objective To summarize the genotypes associated with Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) induced by methazolamide and to provide references for the diagnosis and treatment of SJS and TEN induced by methazolamide. Methods Databases including PubMed, EMbase, CNKI, and WanFang Data were electronically searched from database inception to September 2021. Two reviewers independently screened literature and extracted data, and then a systematic review was performed. Results A total of 18 studies involving 49 patients were included. HLA genetic testing was performed on 37 patients. HLA-B*59:01 was detected in 27 patients, HLA-C*01:02 was detected in 15 patients, and 14 patients carried both genes. Statistical analysis showed that the positive rate of HLA-B*59:01 was 73% (95% CI 0.58 to 0.88) and that of HLA-C*01:02 was 40.5% (95%CI 0.24 to 0.57). The latent time until the symptoms were observed was 14.08 ± 8.77 days, and the mean dosage of methazolamide administered was 88.95±39.45 mg/d. Glucocorticoid and immunoglobulin were the main treatments prescribed. Conclusion Methazolamide can cause SJS and TEN. As the presence of HLA-B*59:01 or HLA-C*01:02 has been reported as a genetic risk factor for these adverse drug reactions, the implementation of genetic screening can effectively reduce their occurrence. Glucocorticoid and immunoglobulin, anti-infectives, should be administered to control the symptoms.
Objective To systematically review the clinical presentations and gene types of oculo-facio-cardio-dental (OFCD) syndrome and to provide a theoretical basis for future diagnosis, prevention, and treatment of the disease. Methods The PubMed, EMbase, The Cochrane Library, Web of Science, CBM, WanFang Data, and CNKI databases were electronically searched to collect studies on OFCD syndrome published from inception to March 1st, 2022. Two reviewers independently screened the literature, extracted data, and assessed the risk of bias of the included studies. A systematic review was then performed. Results A total of 19 studies involving 83 patients with OFCD syndrome were included. The patients had an average age of 15.95±16.03 years, including 5 males and 78 females. The clinical presentations mainly included ocular disorders, facial abnormalities, cardiac disorders, dental abnormalities, physical anomalies, and dysfunctions of other body systems. BCOR gene mutations were detected in 71 patients with OFCD syndrome (overall detection rate: 86%, 95%CI 78% to 93%), of whom five were males (detection rate: 6%, 95%CI 1% to 11%) and 66 were females (detection rate: 80%, 95%CI 71% to 88%). Patients were mostly treated using multidisciplinary symptomatic treatment approaches based on clinical presentations and imaging findings. Conclusion In addition to the typical clinical presentations, BCOR gene testing results should also be taken into consideration for the differential diagnosis of OFCD syndrome. Although symptomatic therapies in clinical practice are relatively mature, they do not address the underlying cause of the disease, i.e., BCOR gene mutations. In future research, greater attention should be diverted to gene therapy.