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Late-onset Papillon-Lefevre syndrome without alteration of the cathepsin C gene

Item Type:Article
Title:Late-onset Papillon-Lefevre syndrome without alteration of the cathepsin C gene
Creators Name:Pilger, U. and Hennies, H.C. and Truschnegg, A. and Aberer, E.
Abstract: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.
Keywords:Cathepsin C, Differential Diagnosis, Mutation, Palmoplantar Keratoderma, Papillon-Lefevre Disease, Periodontal Diseases, Polymerase Chain Reaction
Source:Journal of the American Academy of Dermatology
Number:5 Suppl
Page Range:S240-S243
Date:November 2003
Official Publication:https://doi.org/10.1016/S0190-9622(03)01558-5
PubMed:View item in PubMed

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