Papillon-Lefèvre syndrome: a series of five cases among siblings

• Published in: Journal of medical case reports Vol. 10; no. 1; p. 260
• Main Authors: AIBarrak, Zyad M, Alqarni, Adel S, Chalisserry, Elna P, Anil, Sukumaran
• Format: Journal Article
• Language: English
• Published: England BioMed Central 22.09.2016
• Subjects: Case Report; Disease; Medical treatment; Periodontitis; Gene mutation; Hyperkeratosis; Consanguinity; Cathepsin C; Papillon–Lefèvre syndrome; Palmoplantar keratosis; Premature tooth loss
• ISSN: 1752-1947; 1752-1947
• 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.