Causes of Papillon-Lefèvre Syndrome
PLS is usually caused by genetic mutations in the cathepsin C gene (CTSC). This condition is inherited in an autosomal recessive pattern, meaning both parents must pass down a defective gene.
Symptoms of Papillon-Lefèvre Syndrome
Childhood symptoms may include:
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Hyperkeratosis of the palms and soles of the feet is characterized by thickened skin.
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Periodontitis with early onset: Progressive inflammation and destruction of the gums and tooth-supporting tissues.
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Individuals may lose most or all of their primary and secondary teeth by adolescence.
Diagnosis of Papillon-Lefèvre Syndrome
The diagnosis involves:
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Based on symptoms such as palmoplantar hyperkeratosis and severe periodontitis.
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CTSC gene mutation testing: To confirm mutations.
Treatment of Papillon-Lefèvre Syndrome
Typical management responsibilities include:
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Visiting a dentist or periodontist regularly for oral hygiene and periodontitis treatment.
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Managing palmoplantar hyperkeratosis with emollients and keratolytic agents.
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Counseling on inheritance patterns and risks for affected families.
Prevention of Papillon-Lefèvre Syndrome
As a genetic condition, PLS has no specific prevention measures, but early diagnosis and prompt treatment can help manage symptoms and improve quality of life.
To address both dermatological and dental complications associated with Papillon-Lefèvre Syndrome, a multidisciplinary team of healthcare professionals should be assembled, including dentists, dermatologists, and genetic counselors.
