Papillon-Lefevre Syndrome (PLS)

What is Papillon-Lefevre Syndrome (PLS)?
Papillon–Lefèvre syndrome (PLS) is a rare autosomal recessive disorder, characterized by diffuse palmoplantar keratoderma and precocious aggressive periodontitis, leading to premature loss of deciduous and permanent dentition at a very young age. More information about PLS may be found on the NIH’s website: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4507741/#:~:text=Papillon%E2%80%93Lef%C3%A8vre%20syndrome%20(PLS),at%20a%20very%20young%20age. 

What is the prevalence of Papillon-Lefevre Syndrome (PLS)?
Between two and four people per thousand are heterozygous for the PLS gene and therefore they become carriers of the disorder; this results in a population prevalence of one to four per million people.

How is Papillon-Lefevre Syndrome (PLS) diagnosed?
The diagnosis of Papillon-Lefevre syndrome (PLS) may be confirmed by a thorough clinical evaluation that includes a detailed patient history and identification of characteristic physical findings. In some instances, skin abnormalities may be apparent at birth (congenital) or during infancy including characteristic skin abnormalities on the palms of the hands and the soles of the feet. More information about diagnosis of PLS may be found on NORD’s website: https://rarediseases.org/rare-diseases/papillon-lefevre-syndrome/ 

Is there any specific gene/pathway in Papillon-Lefevre Syndrome (PLS) that has been identified?
Papillon-Lefèvre syndrome is inherited in an autosomal recessive pattern. It results from changes (alterations) of the CTSC gene that regulates production of an enzyme known as cathepsin C.

How is Papillon-Lefevre Syndrome (PLS) treated?
Treatment is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, surgeons, physicians who evaluate and treat skin problems (dermatologists), dentist, dental surgical team, which includes a pediatric dentist, a specialist in treating disorders affecting the area supporting and surrounding the teeth (periodontist), and a specialist in the restoration and replacement of teeth (prosthodontist), and other healthcare professionals may need to systematically and comprehensively plan an affected child’s treatment. 

Are there any clinical trials underway for Papillon-Lefevre Syndrome (PLS)?
The National Institutes of Health (NIH) has completed 1 clinical trial for PLS. Currently, there are 0 clinical trials underway for the condition. More information on future studies and patient recruitment can be found here: https://clinicaltrials.gov/ct2/results?cond=Papillon-Lefevre+&term=&cntry=&state=&city=&dist= 

How can RareShare be helpful to Papillon-Lefevre Syndrome (PLS) patients and families?
The Papillon-Lefevre syndrome (PLS) Rareshare community has 3 members. There is currently 1 active discussion underway. New discussions can help to connect patients, health workers, caregivers and families interested in PLS and provide them continual access to community resources.