Papillon-Lefevre syndrom: kazuistika
| Title in English | Papillon-Lefevre syndrome: case report |
|---|---|
| Authors | |
| Year of publication | 2009 |
| Type | Article in Periodical |
| Magazine / Source | Praktické zubní lékařství |
| MU Faculty or unit | |
| Citation | |
| Field | ORL, ophthalmology, stomatology |
| Keywords | Papillon-Lefevre syndrome; hyperkeratosis; periodontitis; gene; mutation; cathepsin C |
| Description | Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive disorder characterized by severe early-onset periodontal destruction involving both the deciduous and permanent dentition and skin lesions of palmoplantar hyperkeratosis. Recently it was found that PLS patients carry loss-of-function mutations in the gene encoding cathepsin C (CTSC). The aim of this study was analyzed the CTST gene in one Czech family with PLS. |
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