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.

Diseases presenting "liver cirrhosis" symptom

  • allergic bronchopulmonary aspergillosis
  • benign recurrent intrahepatic cholestasis
  • cholangiocarcinoma
  • erythropoietic protoporphyria
  • hirschsprung disease
  • locked-in syndrome
  • papillon-lefèvre syndrome
  • primary effusion lymphoma

This symptom has already been validated