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- W2068188421 abstract "Papillion-Lefevre Syndrome is a rare autosomal recessive disorder characterized by severe early onset periodontopathia and palmoplantar hyperkeratosis leading to premature loss of primary and permanent dentition. PLS is caused by mutations in cathepsin C (CTSC) gene. It is transmitted with an estimated frequency of one to four per million individuals. In this case report, we present clinical and other relevant investigations of three siblings with symptoms typical of Papillion-Lefevre Syndrome. The three siblings were born of a second-degree consanguineous marriage, where the parents were first cousins. All the siblings reported with mobility, eventually leading to loss of teeth and masticatory inefficiency. All showed hyperkeratosis of palms and soles, with youngest sibling showing mild to severe form of severe generalized periodontal destruction. The elder two siblings were given dentures. The youngest sibling is undergoing periodontal therapy and has received partial dentures for missing teeth.Clinical Relevance to Interdisciplinary Dentistry PLS is a rare autosomal disorder which needs to be diagnosed early. Timely intervention of periodontal therapy helps in decreasing the loss of teeth at an early stage. This facilitates growth of jaws and eventual successful placement of implants. Dermatological treatment and psychological counseling are also mandatory Helps to educate the parents and family members. Needs team approach for successful outcome." @default.
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- W2068188421 date "2012-01-01" @default.
- W2068188421 modified "2023-09-26" @default.
- W2068188421 title "Rehabilitation of three siblings with Papillon-Lefevre syndrome" @default.
- W2068188421 cites W2146627943 @default.
- W2068188421 doi "https://doi.org/10.4103/2229-5194.100606" @default.
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