Keratosis palmoplantaris diffusa with mutations in cathepsin C

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

Keratolysis of hyperkeratoses.

Refatting of the skin.

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

Tight dental check-ups.

If necessary, neurological consultation on how to proceed in case of calcification, e.g. of the falx cerebri and the tentorium.

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