Rare Diseases Symptoms Automatic Extraction

Papillon-Lefevre syndrome: clinical presentation and a brief review.

[papillon-lefèvre syndrome]

The Papillon-Lefevre syndrome (PLS) was first described by Papillon and Lefevre in 1924. It is an autosomal recessive disorder characterized by a diffuse palmoplanter hyperkeratosis and rapidly progressive and devastating periodontitis, affecting the primary as well as the permanent dentition, attributed to a point mutation of the cathepsin C gene. This paper presents a clinical presentation and a brief review of its etiology and treatment modalities.

Diseases presenting "hyperkeratosis" symptom

  • child syndrome
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • harlequin ichthyosis
  • lamellar ichthyosis
  • malignant atrophic papulosis
  • oral submucous fibrosis
  • papillon-lefèvre syndrome
  • proteus syndrome
  • triple a syndrome

This symptom has already been validated