Papillon-Lefevre's syndrome

background

Papillon-Lefevre syndrome (PLS) is a form of ectodermal dysplasia, one of a group of syndromes deriving from abnormalities of the ectodermal structures, which include the hair, teeth, nails, sweat glands, cranial-facial structure, and hands. These are genetic disorders that can be inherited in an autosomal dominant or recessive manner.
Symptoms of PLS generally include patches of dry, scaly skin on the palms of the hands and soles of the feet, which appear between ages one and five. Starting at about age three or four, the periodontium, the tissue that provides structure to the teeth, becomes inflamed and begins to break down, causing tooth loss. Additional symptoms may include abnormal sweating of the hands and feet and poorly developed nails on the fingers and toes.
PLS is an inherited disorder, meaning that it is passed down among family members, and is caused by a mutation or defect in the cathepsin C (CTSC) gene. The inheritance pattern is recessive, meaning that individuals must inherit two copies of the genetic mutation or defect for the disease to appear.
PLS is extremely rare, with an estimated prevalence of one to four cases per million people. Males and females appear to be affected in equal numbers. No ethnic or racial population seems to be more affected by PLS than another. PLS tends to occur more frequently in children of parents who are closely related, or consanguineous.
Currently there is no known cure for Papillon-Lefevre syndrome (PLS). Instead, treatment aims to reduce symptoms and prevent or treat complications.

Related Terms

Cathepsin C, CTSC, ectodermal dysplasia, hyperkeratosis palmoplantaris, keratopalmar-plantar keratoderma, keratoris palmoplantaris, palmar-plantar hyperkeratosis, palmoplantar keratoderma, periodontitis, PLS, premature tooth loss.