Rare Diseases Symptoms Automatic Extraction

Papillon-Lefevre syndrome: Report of two cases in the same family.

[papillon-lefèvre syndrome]

Papillon-Lefevre syndrome is a very rare syndrome of autosomal recessive inheritance characterized by palmar-plantar hyperkeratosis and early onset of a severe destructive periodontitis, leading to premature loss of both primary and permanent dentitions. Various etiopathogenic factors are associated with the syndrome but a recent report has suggested that the condition is linked to mutations of the cathepsin C gene. Two cases of Papillon-Lefevre syndrome in the same family, having all of the characteristic features, are presented. An 11-year-old girl and a 9-year-old boy presented with the complaints of loose teeth. Both expressed hyperkeratosis of palms, soles, and knees. Severe generalized periodontal destruction, with mobility of teeth, was evident on intraoral examination; orthopantomograph examination showed severe generalized loss of alveolar bone in both the patients.

Diseases presenting "very rare syndrome" symptom

  • aromatase deficiency
  • erdheim-chester disease
  • kindler syndrome
  • oligodontia
  • papillon-lefèvre syndrome

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