Papillon Lefevre syndrome

Overview

Type of disease: Rare conditions

Papillon-Lefevre syndrome (PALS) is a rare genetic disorder that causes thickening of the skin (keratoderma) on the palms of the hands and soles of the feet (palmoplantar), inflammation of the tissues around the teeth (periodontitis), and early (premature) loss of teeth. The skin of the palms and soles will usually have areas (patches) that are dry and scaly. These areas are at risk for infections. Periodontitis may cause shrinkage of the gums. Symptoms usually occur between 1 and 5 years of age. Most children lose their primary teeth by the age of 4 years and their secondary teeth by 14 years.

PALS is caused by changes (mutations) in the CTSC gene and is inherited in an autosomal recessive way, which means a child must have a mutation in both copies of their CTSC gene to have the condition. The diagnosis of PALS is considered in a child with thick skin patches, inflammation of the gums, and the early loss of teeth. Genetic testing is used to confirm the diagnosis. Treatment options include medications to help reduce the risk of infection in the skin and dentures to replace lost teeth. Other treatment options include a bone graft to help save the teeth before they are lost. If your child has been diagnosed with PALS, talk to their doctor about all treatment options. Support groups can provide additional information and connect you with other affected families.

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