pachyonychia congenita
Findings
No curated finding names pachyonychia congenita yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.
Definition from the Mondo Disease Ontology (MONDO:0016471), read 2026-09-29. CC BY 4.0.
Features
27 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.
- Hyperplastic callus formationHPOHP:0030268
- Very frequent (80% to 99% of cases)
- Lower limb painHPOHP:0012514
- Very frequent (80% to 99% of cases)
- Nail dystrophyHPOHP:0008404
- Very frequent (80% to 99% of cases)
- Onychogryphosis of toenailsHPOHP:0008401
- Very frequent (80% to 99% of cases)
- Palmoplantar blisteringHPOHP:0007446
- Very frequent (80% to 99% of cases)
- Palmoplantar keratodermaHPOHP:0000982
- Very frequent (80% to 99% of cases)
- Cutaneous cystHPOHP:0025245
- Frequent (30% to 79% of cases)
- Epidermoid cystHPOHP:0200040
- Frequent (30% to 79% of cases)
- Fingernail dysplasiaHPOHP:0100798
- Frequent (30% to 79% of cases)
- Follicular hyperkeratosisHPOHP:0007502
- Frequent (30% to 79% of cases)
- Linear arrays of macular hyperkeratoses in flexural areasHPOHP:0007490
- Frequent (30% to 79% of cases)
- Onychogryphosis of fingernailHPOHP:0040036
- Frequent (30% to 79% of cases)
Show the remaining 15
- Oral leukoplakiaHPOHP:0002745
- Frequent (30% to 79% of cases)
- Palmar hyperkeratosisHPOHP:0010765
- Frequent (30% to 79% of cases)
- Palmoplantar hyperhidrosisHPOHP:0007410
- Frequent (30% to 79% of cases)
- Steatocystoma multiplexHPOHP:0012035
- Frequent (30% to 79% of cases)
- Advanced eruption of teethHPOHP:0006288
- Occasional (5% to 29% of cases)
- Ear painHPOHP:0030766
- Occasional (5% to 29% of cases)
Genes
4 genes
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.
Where it sits
- A kind of
Other names
1 name
Resolves to: pachyonychia congenita
- Also called
- PC