AIBarrak Zyad M, Alqarni Adel S, Chalisserry Elna P, Anil Sukumaran
King Abdulaziz Medical City, Ministry of Health, Riyadh, Saudi Arabia.
Department of Preventive Dental Sciences, College of Dentistry, Prince Sattam Bin Abdulaziz University, 153, AIkharj, 11942, Riyadh, Saudi Arabia.
J Med Case Rep. 2016 Sep 22;10(1):260. doi: 10.1186/s13256-016-1051-z.
Papillon-Lefèvre syndrome is a rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and aggressively progressing periodontitis leading to premature loss of deciduous and permanent dentition. The etiopathogenesis of the syndrome is relatively obscure, and immunologic, genetic, or possible bacterial etiologies have been proposed.
A series of five cases of Papillon-Lefèvre syndrome among the siblings in a family is presented here: a 3-year-old Arab girl, a 4-year-old Arab boy, a 11-year-old Arab boy, a 12-year-old Arab boy, and a 14-year-old Arab boy. The patients presented with severe gingival inflammation and mobility of teeth. The clinical manifestations were typical of Papillon-Lefèvre syndrome and the degree of involvement of the oral and skin conditions varied among them.
This case series stresses the consanguinity in the family as an etiologic factor. All siblings in the family were affected with Papillon-Lefèvre syndrome which makes this a rare case. A multidisciplinary approach with the active participation of a dental surgeon, dermatologist, and pediatrician is essential for the management of cases of Papillon-Lefèvre syndrome.
帕皮永-勒费夫尔综合征是一种罕见的常染色体隐性疾病，其特征为掌跖角化过度和侵袭性进展性牙周炎，导致乳牙和恒牙过早缺失。该综合征的病因发病机制相对不明，有人提出了免疫、遗传或可能的细菌病因。
本文介绍了一个家庭中五例患帕皮永-勒费夫尔综合征的兄弟姐妹：一名3岁阿拉伯女孩、一名4岁阿拉伯男孩、一名11岁阿拉伯男孩、一名12岁阿拉伯男孩和一名14岁阿拉伯男孩。这些患者表现为严重的牙龈炎症和牙齿松动。临床表现为典型的帕皮永-勒费夫尔综合征，口腔和皮肤状况的受累程度在他们之间有所不同。
该病例系列强调家族中的近亲关系是一个病因因素。该家庭中的所有兄弟姐妹均患有帕皮永-勒费夫尔综合征，这使其成为一个罕见病例。对于帕皮永-勒费夫尔综合征病例的管理，牙科医生、皮肤科医生和儿科医生积极参与的多学科方法至关重要。
