Papillon-Lefèvre syndrome: Case report and review of the literature
Identifieur interne : 004168 ( Ncbi/Curation ); précédent : 004167; suivant : 004169Papillon-Lefèvre syndrome: Case report and review of the literature
Auteurs : Fayiza Yaqoob Khan ; Suhail Majid Jan ; Mubashir MushtaqSource :
- Journal of Indian Society of Periodontology [ 0972-124X ] ; 2012.
Abstract
Papillon-Lefèvre syndrome is a very rare syndrome of autosomal recessive inheritance characterized by palmar-plantar hyperkeratosis and early onset of a severe destructive periodontitis leading to premature loss of both primary and permanent dentitions. Various etiopathogenic factors are associated with the syndrome; but a recent report has suggested that the condition is linked to mutations of the cathepsin C gene. Two cases of Papillon-Lefèvre syndrome in the same family, having all of the characteristic features are presented. An 11-year-old girl, and her elder sister, a 13-year-old girl complained of loose teeth and discomfort in chewing along with recurrently swollen and friable gums. Both patients also had premature shedding of their deciduous teeth. The family history revealed consanguineous marriage of the parents. Both patients presented with persistent thickening, flaking and scaling of the skin of palms and soles. Severe generalized periodontal destruction with mobility of teeth was evident on intraoral examination; orthopantomograph examination showed severe generalized loss of alveolar bone in both the patients.
Url:
DOI: 10.4103/0972-124X.99273
PubMed: 23055596
PubMed Central: 3459510
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<front><div type="abstract" xml:lang="en"><p>Papillon-Lefèvre syndrome is a very rare syndrome of autosomal recessive inheritance characterized by palmar-plantar hyperkeratosis and early onset of a severe destructive periodontitis leading to premature loss of both primary and permanent dentitions. Various etiopathogenic factors are associated with the syndrome; but a recent report has suggested that the condition is linked to mutations of the cathepsin C gene. Two cases of Papillon-Lefèvre syndrome in the same family, having all of the characteristic features are presented. An 11-year-old girl, and her elder sister, a 13-year-old girl complained of loose teeth and discomfort in chewing along with recurrently swollen and friable gums. Both patients also had premature shedding of their deciduous teeth. The family history revealed consanguineous marriage of the parents. Both patients presented with persistent thickening, flaking and scaling of the skin of palms and soles. Severe generalized periodontal destruction with mobility of teeth was evident on intraoral examination; orthopantomograph examination showed severe generalized loss of alveolar bone in both the patients.</p>
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