Papillon-Lefèvre Syndrome and Basal Cell Carcinoma: A Case Study.
PMID 31244643 | PMCID PMC6587205 | DOI 10.1159/000500502 · Case reports in oncology · 2019
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.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CTSC | “PLS is caused by mutations in the cathepsin-C (CTSC) gene.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Thus, we report a case of a 55-year-old male from Arabic Saudi with PLS and basal cell carcinoma.” | 0.95 | saudi_context_rules_v1 |