Keratosis palmoplantaris diffusa with mutations in Cathepsin C

Last Updated: 2019-08-27

Author(s): Anzengruber F., Navarini A.

ICD11: -

Papillon & Lefèvre 1924

Papillon – Lefèvre – Syndrome 

Palmoplantare keratosis, which is due to a mutation in the CTSC gene.

Autosomal recessive mutation in the CTSC gene coding for cathepsin C.

Since cathepsin C is expressed in the skin, gums and osteoclasts, the pathological changes can be found there.


  • Palmoplantare hyperkeratoses of the diffuse type.
  • Hyperkeratoses can also occur in the finger joints, elbows and knees.


  • Peridontitis 


  • Bony calcification, especially cranial. 



Genetic investigation 

Dental Consil 

X-ray of the skull, if necessary neurological consil.

Keratolysis of hyperkeratoses.

Lipidification of the skin.

Acitretin in low dosage, such as 0.1 mg per kg bw daily may be tried. 

Close meshed dental controls.

If necessary, neurological consultation on how to proceed with calcification, e.g. the Falx cerebri, as well as the Tentorium.

  1. Chaubal T, Bapat R, Wadkar P. Papillon Lefevre syndrome. QJM. 2017 Apr 26. 
  2. Kaliki S, Singh S, Gowrishankar S, Reddy VAP. Ocular Surface Squamous Neoplasia in Papillon-Lefèvre Syndrome: Outcome at Long-Term Follow-Up of 12 Years. Cornea. 2017 Jun;36(6):743-746.
  3. Björnsdottir H, Dahlstrand Rudin A, Klose FP, Elmwall J, Welin A, Stylianou M, Christenson K, Urban CF, Forsman H, Dahlgren C, Karlsson A, Bylund J. Phenol-Soluble Modulin α Peptide Toxins from Aggressive Staphylococcus aureusInduce Rapid Formation of Neutrophil Extracellular Traps through a Reactive Oxygen Species-Independent Pathway. Front Immunol. 2017 Mar 9;8:257. 
  4. Martinho S, Levade T, Fergelot P, Stephan JL. Papillon-Lefèvre syndrome: A new case. Arch Pediatr. 2017 Apr;24(4):360-362.