■Kindler大疱性表皮松解症是一种遗传性皮肤起泡性疾病,与编码kindlin-1的FERMT1隐性遗传致病变异有关。Kindler大疱性表皮松解症的严重口面部表现,包括早期口腔鳞状细胞癌,已被报道。
■为了确定发育不良的凹陷性釉质发育不全是否是Kindler大疱性表皮松解症的特征。
■这个纵向,2中心队列研究于2003年至2023年在大疱性表皮松解症中心进行,弗莱堡大学,德国,和特殊护理牙科诊所,智利大学与智利DEBRA合作。参与者包括所有诊断为Kindler表皮松解性大疱性的患者的便利样本。
■主要结果是存在发育不良的凹陷性牙釉质不全症,口内伤口,牙龈炎和牙周病,牙龈增生,前庭闭塞,唇炎,角状唇炎,慢性嘴唇伤口,微小口腔,和口腔鳞状细胞癌。
■该队列包括36名患者(15名女性[42%]和21名男性[58%];第一次检查时的平均年龄,23年[范围,2周至70年])与Kindler表皮大疱性松解症。随访1~24年。评估了11例患者的牙釉质结构,所有患者均表现为牙釉质结构异常。发育不良的釉质发生不全症的严重程度从广义点蚀到局部点蚀。观察到的其他口面特征包括牙龈炎和牙周病,90%(30名患者中有27名)的评估对象存在,其次是口内病变(22例患者中的16例[73%]),唇角炎(33例患者中的24例[73%]),唇炎(34例患者中有22例[65%]),牙龈过度生长(26例患者中的17例[65%]),微口腔(25例患者中有14例[56%]),和前庭闭塞(16例患者中有8例[50%])。其他特征包括慢性唇溃疡(2例)和具有致死性结果的口腔鳞状细胞癌(2例)。
■这些研究结果表明,发育不良的凹陷性牙釉质不全是Kindler大疱性表皮松解症的一个特征,并强调了Kindler大疱性表皮松解症口腔表现的程度和严重程度以及早期和持续牙科护理的必要性。
UNASSIGNED: Kindler epidermolysis bullosa is a genetic skin-blistering disease associated with recessive inherited pathogenic variants in FERMT1, which encodes kindlin-1. Severe orofacial manifestations of Kindler epidermolysis bullosa, including early oral squamous cell carcinoma, have been reported.
UNASSIGNED: To determine whether hypoplastic pitted amelogenesis imperfecta is a feature of Kindler epidermolysis bullosa.
UNASSIGNED: This longitudinal, 2-center cohort study was performed from 2003 to 2023 at the Epidermolysis Bullosa Centre, University of Freiburg, Germany, and the Special Care Dentistry Clinic, University of Chile in association with DEBRA Chile. Participants included a convenience sampling of all patients with a diagnosis of Kindler epidermolysis bullosa.
UNASSIGNED: The primary outcomes were the presence of hypoplastic pitted amelogenesis imperfecta, intraoral wounds, gingivitis and periodontal disease, gingival hyperplasia, vestibular obliteration,
cheilitis, angular
cheilitis, chronic lip wounds, microstomia, and oral squamous cell carcinoma.
UNASSIGNED: The cohort consisted of 36 patients (15 female [42%] and 21 male [58%]; mean age at first examination, 23 years [range, 2 weeks to 70 years]) with Kindler epidermolysis bullosa. The follow-up ranged from 1 to 24 years. The enamel structure was assessed in 11 patients, all of whom presented with enamel structure abnormalities. The severity of hypoplastic pitted amelogenesis imperfecta varied from generalized to localized pitting. Additional orofacial features observed include gingivitis and periodontal disease, which was present in 90% (27 of 30 patients) of those assessed, followed by intraoral lesions (16 of 22 patients [73%]), angular
cheilitis (24 of 33 patients [73%]),
cheilitis (22 of 34 patients [65%]), gingival overgrowth (17 of 26 patients [65%]), microstomia (14 of 25 patients [56%]), and vestibular obliteration (8 of 16 patients [50%]). Other features included chronic lip ulcers (2 patients) and oral squamous cell carcinoma with lethal outcome (2 patients).
UNASSIGNED: These findings suggest that hypoplastic pitted amelogenesis imperfecta is a feature of Kindler epidermolysis bullosa and underscore the extent and severity of oral manifestations in Kindler epidermolysis bullosa and the need for early and sustained dental care.