Late-onset Papillon-Lefèvre syndrome without alteration of the cathepsin C gene.
Mutations in the cathepsin C gene have recently been detected in Papillon-Lefèvre syndrome (PLS). Until now, 5 cases with the late-onset variation of this disease have been reported in the literature. The genetic background of this type of PLS is still unknown. We describe a 46-year-old woman with late-onset transgredient palmar hyperkeratosis and a 10-year history of severe periodontal disease. Histology of skin biopsy specimens revealed a psoriasiform pattern. Dental examination showed severe gingival inflammation with loss of alveolar bone. Dental plaque investigated by a polymerase chain reaction method revealed DNA signals of 5 different dental bacteria. DNA from EDTA blood was investigated for mutations in the cathepsin C gene by polymerase chain reaction analysis and direct sequencing. A silent variation in the codon for proline-459 was detected but interpreted as a polymorphism of this gene. All genetic linkage and mutation studies for PLS performed so far have shown that PLS is genetically homogeneous. Our patient with late-onset variation of PLS, however, did not show a mutation in the cathepsin C gene. Thus, we suspect that there is another genetic cause for the late-onset forms of PLS.
Pilger
Ulrike
U
Department of Dermatology, Karl-Franzens University, Graz, Austria.
Hennies
Hans Christian
HC
Truschnegg
Astrid
A
Aberer
Elisabeth
E
D020789:Cathepsin C / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000209:etiology / Q000473:pathology; D008875:Middle Aged; D009154:Mutation; D010214:Papillon-Lefevre Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D010510:Periodontal Diseases / Q000209:etiology / Q000382:microbiology / Q000473:pathology; D016133:Polymerase Chain Reaction
D020789:Cathepsin C