PAPILLON LEFEVRE SYNDROME Meaning and
Definition
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Papillon Lefevre Syndrome (PLS) is a rare genetic disorder that is characterized by a combination of skin and oral problems. It is named after the two French physicians who first described the syndrome, Papillon and Lefevre. PLS is inherited in an autosomal recessive pattern, meaning that both parents must carry the gene mutation in order for their child to develop the syndrome.
The most prominent feature of PLS is the development of thick, scaly skin on the palms of the hands and soles of the feet, a condition known as palmoplantar keratoderma. This keratoderma can be painful and can restrict movement in the affected areas. Additionally, individuals with PLS often experience severe periodontitis, which is the inflammation and destruction of the gums and tooth-supporting structures. This can lead to premature loss of primary and permanent teeth, typically by the age of 4-5 years.
PLS is caused by mutations in the Cathepsin C (CTSC) gene, which is responsible for producing an enzyme called dipeptidyl peptidase I (DPPI). DPPI is involved in the immune response and helps to regulate the activity of immune cells. However, the specific mechanisms through which these gene mutations lead to the characteristic symptoms of PLS are still not fully understood.
Treatment for PLS focuses on managing the symptoms, particularly the periodontal problems. This may involve regular dental cleanings, antibiotics to control infections, and in some cases, extraction of damaged teeth. Dermatological therapies may also be used to manage the skin manifestations.
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