Papillon–Lefèvre syndrome

Also known as: Palmoplantar keratoderma with periodontitis

Palmoplantar keratoderma with severe early periodontitis.

Medical specialty: Dermatology
Subspecialty: Dermatology / Genodermatoses
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, onset 1–5 years
Gene(s) involved: CTSC

Etiology & mechanism

Cathepsin C deficiency impairing neutrophil serine protease activation.

Gene(s) involved (1)

CTSC

Symptoms & signs (5)

liver abscesspalmoplantar keratodermaperiodontitispremature tooth lossrecurrent infections

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