pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Findings
No curated finding names pyogenic arthritis-pyoderma gangrenosum-acne syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.
Definition from the Mondo Disease Ontology (MONDO:0011462), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
28 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.
- AllergyHPOHP:0012393
- 1 of 1 reported patient
- ArthritisHPOHP:0001369
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- CellulitisHPOHP:0100658
- 1 of 1 reported patient
- ColitisHPOHP:0002583
- 1 of 1 reported patient
- Elbow flexion contractureHPOHP:0002987
- 1 of 1 reported patient
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 1 of 1 reported patient
- HepatosplenomegalyHPO
Show the remaining 16
- AcneHPOHP:0001061
- Very frequent (80% to 99% of cases)
- FatigueHPOHP:0012378
- Very frequent (80% to 99% of cases)
- FeverHPOHP:0001945
- Very frequent (80% to 99% of cases)
- Limitation of joint mobilityHPOHP:0001376
- Very frequent (80% to 99% of cases)
- PustuleHPOHP:0200039
- Very frequent (80% to 99% of cases)
- Skin ulcerHPOHP:0200042
- Very frequent (80% to 99% 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.
- PSTPIP1HGNC:9580
- Definitive · G2P · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- Also called
- familial recurrent arthritisFRAPAPApapa syndrome