Papillon-Lefevre Syndrome (PLS) is a very rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and severe early onset periodontitis, affecting the primary and permanent dentition. The syndrome was first described by Papillon and Lefevre in 1924. Genetic, immunologic, and microbiologic factors are suggested as responsible for the initiation and progression of the disease. A point mutation of cathepsin C gene has recently been detected in PLS. A multidisciplinary approach is important for management .The prognosis has improved with the early recognition of the syndrome, effective professional supervision, and home care.
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The di-leucine motif in the host defense peptide LL-37 is essential for initiation of autophagy in human macrophages.
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Pharmacological inhibition of cathepsin S and of NSPs-AAP-1 (a novel, alternative protease driving the activation of neutrophil serine proteases).
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INSERM UMR-1100, Research Center for Respiratory Diseases, Tours, France; Université de Tours, Tours, France. Electronic address:
An uncontrolled activity of neutrophil serine proteases (NSPs) contributes to inflammatory diseases. Cathepsin C (CatC) is known to activate NSPs during neutrophilic differentiation and represents a promising pharmacological target in NSP-mediated diseases. In humans, Papillon-Lefèvre syndrome (PLS) patients have mutations in theirCTSC gene, resulting in the complete absence of CatC activity.
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National & Local Joint Engineering Research Centre of Orthopaedic Biomaterials, Peking University Shenzhen Hospital, Shenzhen, Guangdong, China.
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Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, 10330, Thailand.
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Skeletal indicators of pathology in the context of early tooth loss in children: A systematic literature review.
Int J Paleopathol
September 2024
Univ. de Bordeaux, UFR des Sciences odontologiques, Bordeaux, France; Université de Bordeaux, CNRS, Ministère de la Culture, PACEA, UMR 5199, Pessac, France; Centre de Compétence des Maladies Rares Orales et Dentaires, CCMR O-Rares, C.H.U. de Bordeaux, France. Electronic address:
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