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

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.

journal_name

J Am Acad Dermatol

journal_title

Journal of the American Academy of Dermatology

authors

Pilger U,Hennies HC,Truschnegg A,Aberer E

doi

10.1016/s0190-9622(03)01558-5

subject

Has Abstract

pub_date

2003-11-01 00:00:00

pages

S240-3

issue

5 Suppl

eissn

0190-9622

issn

1097-6787

pii

S0190962203015585

journal_volume

49

pub_type

杂志文章,评审

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