[MIM 245 010] 

Rare. Autosomal recessive transmission. transmission of a mutation of the CTSA gene on 11q14-q21 that results in a loss of function of cathepsin C, and therefore a decreased immunity. It is almost exclusively found in the native Jewish population of the region of Cochin in the South India. It is an allelic variation of Papillon-Lefevre syndrome.

Association of:

-         palmoplantar psoriasiform hyperkeratosis, which often overflows on the dorsal side, and limb psoriasiform lesions

-         periodontopathy which causes the loss of teeth; it is, however, less severe than in the Papillon-Lefevre syndrome

-         arachnodactyly

-         acroosteolysis with cone-shaped deformation of the distal phalanges of the hands

-         nail lesions (onychogryposis)

-         flat feet.

The first signs appear between 6 months and 4 years of age. The chronic gingival inflammation starts with the eruption of the first deciduous teeth and leads to a periodontopathy with premature loss of deciduous teeth and permanent teeth, and significant resorption of the alveolar bone. Hyperkeratosis is manifested in the form of plates and is often associated with a hyperhidrosis and a bad smell. Cutaneous and hepatic abscess have been reported.

Treatment: keratolytics for skin lesions; a treatment with retinoids appear to slow the loss of teeth and reduce the 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

Updated: April 2019