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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Detalles Bibliográficos
Autores principales: Thakare, Kaustubh Suresh, Bhongade, M. L., Charde, Pretti, Kale, Shweta, Jaiswal, Priyanka, Somnath, B. K., Pendor, Sunil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3834890/
https://www.ncbi.nlm.nih.gov/pubmed/24303219
http://dx.doi.org/10.1155/2013/404120
Descripción
Sumario: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.

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