Papillon-Lefevre disease
Findings
No curated finding names Papillon-Lefevre disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.
Definition from the Mondo Disease Ontology (MONDO:0009490), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal fingernail morphologyHPOHP:0001231
- Very frequent (80% to 99% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- Atrophy of alveolar ridgesHPOHP:0006308
- Very frequent (80% to 99% of cases)
- GingivitisHPOHP:0000230
- Very frequent (80% to 99% of cases)
- Palmoplantar hyperkeratosisHPOHP:0000972
- Very frequent (80% to 99% of cases)
- Palmoplantar keratodermaHPOHP:0000982
- Very frequent (80% to 99% of cases)
Show the remaining 17
- Cerebral calcificationHPOHP:0002514
- Frequent (30% to 79% of cases)
- Chronic furunculosisHPOHP:0011132
- Frequent (30% to 79% of cases)
- Nail dystrophyHPOHP:0008404
- Frequent (30% to 79% of cases)
- Recurrent cutaneous abscess formationHPOHP:0100838
- Frequent (30% to 79% of cases)
- Recurrent respiratory infectionsHPOHP:0002205
- Frequent (30% to 79% of cases)
- Recurrent skin infectionsHPOHP:0001581
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CTSCHGNC:2528
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
Other names
3 names
Resolves to: Papillon-Lefevre disease
- Also called
- keratosis palmoplantar-periodontopathy syndromePapillon Lefèvre SyndromePLS