Papillon-LefÈvre Syndrome: Report of Two Cases in Siblings

Abstract

<h3>Introduction</h3> Papillon-Lefèvre syndrome (PLS) is an unusual health condition manifested by pre-pubertal extensive periodontal disease that results in early tooth loss and palmoplantar keratosis. The etiology of PLS is loss-offunction mutations in the cathepsin C gene. This gene is a lysosomal protease that plays an essential role in immune and inflammatory responses. <h3>Case Presentation</h3> We present two cases in siblings with PLS. The parents of the patients are relative. The first patient is 20 years old who presented to the clinic with highly resorbed maxillary and mandibular alveolar ridges with only wisdom teeth remaining in the oral cavity at the time of examination. According to the dental history, there was aggressive periodontitis followed by complete destruction of the periodontium and severe bone resorption. There was skin manifestations of PLS including palmoplantar and dorsal keratosis in their extremities as well as the knee and wrist joint regions. The second sibling was 9 years old with only skin manifestations similar to the older sibling. The periodontal status of the younger patient was stable at the time of clinical examination. Interestingly, they reported that their 16-year-old female cousin also suffers from the same condition, with almost the same clinical manifestations as the older sibling. <h3>Conclusion</h3> We report two cases of PLS in patients of same family, which supports the hereditary nature of cathepsin C mutation in PLS patients. In addition, variability of clinical expression of PLS is very evident in the current cases, which reflects that the PLS can show a broad spectrum of clinical features.