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Pilger, U; Hennies, HC; Truschnegg, A; Aberer, E.
Late-onset Papillon-Lefèvre syndrome without alteration of the cathepsin C gene.
J AMER ACAD DERMATOL. 2003; 49(5 Suppl): S240-S243. Doi: 10.1067/S0190-9622(03)01558-5 (- Case Report)
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Leading authors Med Uni Graz: Aberer Elisabeth
Co-authors Med Uni Graz: Truschnegg Astrid
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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.
Find related publications in this database (using NLM MeSH Indexing): Diagnosis, Differential -; Dipeptidyl Peptidase I - genetics; Female - genetics; Humans - genetics; Keratoderma, Palmoplantar - etiology; Middle Aged - etiology; Mutation - etiology; Papillon-Lefevre Disease - complications; Periodontal Diseases - etiology; Polymerase Chain Reaction - etiology