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Genetic Mapping in Papillon-Lefèvre Syndrome: A Report of Two Cases

Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive heterogeneous trait which is characterized by erythematous palmoplantar hyperkeratosis, early-onset periodontitis, and associated calcification of dura mater. The etiology of PLS is multifactorial with genetic, immunological, and microbia...

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Main Authors: Kaustubh Suresh Thakare (Author), M. L. Bhongade (Author), Pretti Charde (Author), Shweta Kale (Author), Priyanka Jaiswal (Author), B. K. Somnath (Author), Sunil Pendor (Author)
Format: Book
Published: Hindawi Limited, 2013-01-01T00:00:00Z.
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Summary:Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive heterogeneous trait which is characterized by erythematous palmoplantar hyperkeratosis, early-onset periodontitis, and associated calcification of dura mater. The etiology of PLS is multifactorial with genetic, immunological, and microbial factors playing a role in etiopathogenesis. Recently identified genetic defect in PLS has been mapped to chromosome 11q14-q21, which involves mutations of cathepsin C. This paper presents a report of 2 cases of Papillon-lefevre syndrome in which diagnosis is based on clinical presentation and genetic mapping.
Item Description:2090-6447
2090-6455
10.1155/2013/404120

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