Rare Diseases Symptoms Automatic Extraction

Systemic lupus erythematosus complicated with liver cirrhosis in a patient with Papillon-Lefèvre syndrome.

[papillon-lefèvre syndrome]

We report the first case of a girl who presented with Papillon-Lefèvre syndrome (PLS) and subsequently developed systemic lupus erythematosus and liver cirrhosis. This indicates that autoimmune diseases can be a complication in patients with PLS. Cathepsin C gene mutations were not found in our patient or her mother. Thus, other genetic factors may have been involved in this patient.