Papillon-Lefèvre syndrome

Papillon-Lefèvre syndrome is an inherited disorder that affects both the skin and the gums. It follows an autosomal recessive pattern, meaning a child is affected only after receiving a faulty copy of the gene from each parent, who usually carry one copy without symptoms. The faulty gene is CTSC on chromosome 11, which leads to a deficiency of the enzyme cathepsin C. The two defining features are thickened, hardened skin on the palms and soles, called palmoplantar keratoderma, and severe periodontitis that destroys the tissue supporting the teeth. Skin changes usually appear in the first years of life, and most primary teeth are lost by about age four and most permanent teeth by about fourteen. Diagnosis rests on the characteristic signs, a urine test for cathepsin C activity, and genetic testing. Care is shared by dermatology, medical genetics and dentistry, and no treatment yet preserves all natural teeth, though loss can be delayed.