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Papillon-Lefèvre Syndrome and Basal Cell Carcinoma: A Case Study

Authors
  • Alsaif, Fahad M.
  • Arafah, Maria A.
  • Alenazi, Rasha T.
  • Alotaibi, Ghadah F.
Type
Published Article
Journal
Case Reports in Oncology
Publisher
S. Karger AG
Publication Date
Jun 05, 2019
Volume
12
Issue
2
Pages
411–417
Identifiers
DOI: 10.1159/000500502
PMID: 31244643
PMCID: PMC6587205
Source
Karger
Keywords
License
Green
External links

Abstract

Papillon–Lefèvre syndrome (PLS) is a rare autosomal recessive disorder characterized by palmoplantar keratoderma and early-onset periodontitis. It was first described by Papillon and Lefèvre in 1924. PLS is caused by mutations in the cathepsin-C (CTSC) gene. The development of malignant skin neoplasms in PLS patients is extremely rare. To date, there have been two cases of malignant melanoma (MM) in PLS patients reported in international journals. Further, only one case of squamous cell carcinoma (SCC) has been reported in PLS patients. To the best of our knowledge, no cases with basal cell carcinoma in PLS patients have been reported in literature. Thus, we report a case of a 55-year-old male from Arabic Saudi with PLS and basal cell carcinoma. The patient was homozygous for a G-to-C substitution at the nucleotide position 815 (CTSC, c.815G>Cp.(Arg272Pro), which is a pathogenic variant. Since this is not the first case of skin cancer in PLS patients, we are supporting the possibility that cathepsin-C play a role in cancer development.

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