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Dermatology · Dermatology / Genodermatoses

Papillon–Lefèvre syndrome

also: Palmoplantar keratoderma with periodontitis

Palmoplantar keratoderma with severe early periodontitis.

Specialty
Dermatology
Subspecialty
Dermatology / Genodermatoses
Sex & age distribution
Male: affected; Female: affected, equal; Children: yes, onset 1–5 years
Gene(s) involved
CTSC
Alternative names & eponyms
Palmoplantar keratoderma with periodontitis

Etiology & mechanism

Cathepsin C deficiency impairing neutrophil serine protease activation.

Gene(s) involved (1)

Symptoms & signs (5)

In plain terms, someone with Papillon–Lefèvre syndrome may experience the following — click any to explore related syndromes:

Same gene(s)

Other syndromes that involve one of this syndrome's genes.

Overlapping symptoms

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