Rare Diseases Symptoms Automatic Extraction

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.

Diseases presenting "cathepsin c gene mutation" symptom

  • papillon-lefèvre syndrome

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