Papillon-Lefevre Syndrome

Papillon-Lefèvre Syndrome (PLS) is characterized by two main features: palmoplantar keratoderma (PPK) with thickening (hyperkeratosis) of the skin of palms and soles, and severe, early-onset periodontitis leading to the premature loss of dentition. Other symptoms of PLS may include pyogenic skin infections, nail dystrophy, hyperhidrosis, increased susceptibility to infection, and ectopic cranial calcifications (Laass et al., 1997; Hart et al., 2000b). One study (Hart et al., 2000b) identified pathogenic CTSC mutations in 30 out of 36 families with PLS, indicating a clinical sensitivity of ~83%.

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Test Details

CTSC
  • Capillary Sequencing

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735
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Dried Blood Spots | Buccal Swabs

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