Papillon-Lefèvre syndrome: report of three cases in the same family.

[papillon-lefèvre syndrome]

Papillon-Lefèvre 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 , periodontopathy and precocious loss of dentition , and increased susceptibility to infections . Pyogenic liver abscess is an increasingly recognized complication . Three cases of Papillon-Lefevre syndrome in the same family are presented here . Two of the three siblings presented with characteristic manifestations of the syndrome . The third case had died previously due to liver abscess prior to a diagnosis of Papillon-Lefèvre syndrome .