Keratosis palmoplantaris diffusa with mutations in cathepsin C

Last Updated: 2023-07-07

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

ICD11: -

Papillon & Lefèvre 1924

Papillon – Lefèvre – Syndrome

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

Autosomal – recessive mutation in the CTSC – gene encoding cathepsin C.

Since cathepsin C is expressed in the skin, the gums, as well as the osteoclasts, the pathological changes are found there.

Skin:

  • Palmoplantar hyperkeratoses, of the diffuse type.
  • Hyperkeratoses may also occur on the finger joints, elbows and knees.

Tooth gums:

  • Peridontitis

Bones:

  • Bony calcification, especially cranial. 

Anamnesis

Clinical

Genetic examination

Dental consultation

X-ray of the skull, neurological consultation if necessary

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