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 "autoimmune diseases" symptom

  • 22q11.2 deletion syndrome
  • acute rheumatic fever
  • aniridia
  • familial mediterranean fever
  • hodgkin lymphoma, classical
  • inclusion body myositis
  • oculocutaneous albinism
  • oligodontia
  • omenn syndrome
  • papillon-lefèvre syndrome
  • primary hyperoxaluria type 1
  • sneddon syndrome
  • waldenström macroglobulinemia
  • wiskott-aldrich syndrome

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