Papillon Lefèvre Syndrome is a rare genetic disorder impacting about one in a million individuals worldwide. Its hallmark symptoms include palmoplantar keratodoma and severe gingivitis.

0:45 - Biological Basis of Disease
7:45 - Symptoms & Manifestations
10:55 - Diagnosis
11:55 - Treatment & Disease Management Options

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The sources used in this episode include:
Sreeramulu, B., Shyam, N.D., Aja, P., and Suman, P. (2015) “Papillon-Lefèvre syndrome: clinical presentation and management options.” Clinical, Cosmetic and Investigational Dentistry 2015:7; 75-81. From https://doi.org/10.2147/CCIDE.S76080

Korkmaz, B., Seren, S., Kara, E., and Moss, C. (2022). “The discovery of the Papillon-Lefèvre syndrome, a rare cathepsin C related lysosomal disease.” Rare Disease and Orphan Drugs Journal. DOI: 10.20517/rdodj.2022.26

National Organization for Rare Diseases. (2019). “Papillon Lefèvre Syndrome.” National Organization for Rare Diseases. From https://rarediseases.org/rare-diseases/papillon-lefevre-syndrome/

Shah, A. F., Tangade, P., and Agarwal, S. (2014) “Papillon-Lefevre syndrome: Reporting consanguinity as a risk factor. Saudi Dental Journal: 19;26(3): 126-131. From 10.1016/j.sdentj.2014.02.004

Posteraro, A. F. (1992). “Papillon-Lefèvre syndrome.” J Ala Dent Assoc; 76(3): 16-19. From https://pubmed.ncbi.nlm.nih.gov/1452914/

AlBarrak, Z. M., Alqarni, A. S., Chalisserry, E. P. and Anil, S. (2016). “Papillon-Lefèvre syndrome: a series of five cases among siblings.” Journal of Medical Case Reports; 10: 260. From https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-016-1051-z