Papillon-Lefevre Syndrome

[摘要] Papillon-Lefevre syndrome is a rare autosomal recessive disorder caused by cathepsin C gene mutation leading to the deficiency of cathepsin C enzymatic activity. The disease is characterized by palmoplantar hyperkeratosis, loss of deciduous and permanent teeth and increased susceptibility to infections. Onset of palmoplantar hyperkeratosis and periodontopathy is most commonly before the age of 4 years.

[学科分类] 皮肤病学

[关键词] cathepsin C;gene mutation;hyperkeratosis;infections;keratoderma;oral mucous membranes;psoriasis;Papillon-Lefevre syndrome;teeth