Papillon-Lefevre, syndrome

[MIM 245 000]

(Palmoplantar keratoderma-periodontopathy)

Prevalence: 1 to 4 cases/1.106. Autosomal recessive transmission of a mutation of the PLS gene (11q14-q21) that leads to a functional loss of cathepsin, resulting in decreased bactericidal function of the polynuclear cells.

Association of:

-        psoriasiform palmoplantar hyperkeratosis that often overflows on the dorsal side

-        periodontopathy resulting in a rapid loss of deciduous and permannet teeth and major alveolar bone resorption

-        defective immunity

The first signs appear between 6 months and 4 years of age. Chronic gingival inflammation beginning with the eruption of the first deciduous teeth, leads to gingivitis followed with periodontopathy. Hyperkeratosis presents in the form of plates,  often associated with hyperhidrosis and bad smell. Cases of cutaneous and hepatic abscess have been reported.

Treatment: keratolytics for skin lesions; daily mouthwashs (NaHCO3 + buccal antiseptic [cotrimoxazole]); retinoids (acitretin) appear to slow the loss of teeth and reduce hyperkeratosis.


Anesthetic implications:

fragile teeth, antibioprophylaxis.


References : 

-         Initial expression of the Papillon-Lefèvre syndrome in consanguine family. 
BMJ Case Reports 2012 doi 10.1136/bcr-2012-006313

-        Martinho S, Levade T, Fergelot P, Stephan J-L.
Le syndrome de Papillon-Lefèvre, à propos dune nouvelle observation.
Arch Pédiatr 2017 ; 24 : 360-2.


Updated: April 2017