Conditions / Syndrome
Papillon-Lefevre disease
info · Syndrome
An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14.
Signs and symptoms
- Atrophy of alveolar ridges
- Severe periodontitis
- Premature loss of teeth
- Choroid plexus calcification
- Palmoplantar hyperkeratosis
Also known as: Papillon Lefevre syndrome; Papillon-Lefvre syndrome