目的:召开了2012年国际结节性硬化症临床共识会议,以更新1998年的最后共识声明。皮肤和牙齿病变在结节性硬化症(TSC)中很常见,并且是患者经常关注的问题。识别这些病变对于早期诊断至关重要,考虑到可能改善患者预后的治疗进展。
目的:详细的诊断建议,监视,以及TSC中皮肤和牙齿病变的管理。
方法:TSC皮肤病学和牙科小组委员会,12个小组委员会中的1个,回顾了1997年至2012年的相关文献。
结果:在提出建议之前,皮肤科和牙科小组委员会就皮肤和牙齿问题达成了共识,讨论,并在2012年6月14日至15日所有小组委员会的小组会议上达成一致。
结论:在诊断标准中,皮肤和牙齿的表现包括11个主要特征中的4个和6个次要特征中的3个。TSC的明确诊断定义为存在至少2个主要特征或1个主要特征和2个或更多个次要特征;此外,TSC1或TSC2中的病理突变是诊断性的。皮肤和口腔检查应每年和每3至6个月进行一次,分别。干预可能适用于TSC皮肤或口腔病变出血,症状,毁容,或对功能产生负面影响。提出的选择包括手术切除,激光,或使用哺乳动物雷帕霉素靶抑制剂。
OBJECTIVE: The 2012 International Tuberous Sclerosis Complex Clinical
Consensus Conference was convened to update the last
consensus statement in 1998. Skin and dental lesions are common in tuberous sclerosis complex (TSC) and are a frequent concern for patients. Recognition of these lesions is imperative for early diagnosis, given the treatment advances that may improve patient outcomes.
OBJECTIVE: To detail recommendations for the diagnosis, surveillance, and management of skin and dental lesions in TSC.
METHODS: The TSC Dermatology and Dentistry Subcommittee, 1 of 12 subcommittees, reviewed the relevant literature from 1997 to 2012.
RESULTS: A
consensus on skin and dental issues was achieved within the Dermatology and Dentistry Subcommittee before recommendations were presented, discussed, and agreed on in a group meeting of all subcommittees from June 14 to 15, 2012.
CONCLUSIONS: Skin and dental findings comprise 4 of 11 major features and 3 of 6 minor features in the diagnostic criteria. A definite diagnosis of TSC is defined as the presence of at least 2 major features or 1 major and 2 or more minor features; in addition, a pathological mutation in TSC1 or TSC2 is diagnostic. Skin and oral examinations should be performed annually and every 3 to 6 months, respectively. Intervention may be indicated for TSC skin or oral lesions that are bleeding, symptomatic, disfiguring, or negatively affecting function. Options presented include surgical excision, laser(s), or use of a mammalian target of rapamycin inhibitor.