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A rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.
Features include always present findings: Pyoderma gangrenosum, Elevated platelet count (thrombocytosis), Colitis, and Elevated CRP (inflammation marker) (elevated circulating c-reactive protein concentration) and others; and very common findings: Acne, Sterile arthritis, Joint inflammation (arthritis), and Limitation of joint mobility and others. 29 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 4 |
PSTPIP1 function has not been fully characterized.
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is associated with mutations in the PSTPIP1 gene on chromosome 15.
Genetic testing for PSTPIP1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for pyogenic arthritis-pyoderma gangrenosum-acne syndrome has been reported in the published literature.
Phenotype severity distribution: 10 always present features, 8 very common features, 4 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for pyogenic arthritis-pyoderma gangrenosum-acne syndrome.
107 publications have been identified in PubMed for pyogenic arthritis-pyoderma gangrenosum-acne syndrome. Research spans Basic Science / Preclinical (28%), Epidemiology / Natural History (19%), and Review / Meta-Analysis (18%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 29 | 28% |
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:42 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Blood and immune system | 3 | Elevated platelet count (thrombocytosis), Small red blood cells (microcytic anemia), Low blood cell counts (all types) (pancytopenia) |
Muscles | 3 | Knee flexion contracture, Elbow flexion contracture, Limitation of joint mobility |
Digestive system | 2 | Colitis, Hepatosplenomegaly |
Lab test results | 2 | Elevated CRP (inflammation marker) (elevated circulating c-reactive protein concentration), Elevated antibody levels (increased circulating immunoglobulin concentration) |
Kidneys and urinary system | 1 | Protein in the urine (proteinuria) |
Metabolism | 1 | Fever |
Brain and nerves | 1 | Fatigue |
Hormones | 1 | Type I diabetes mellitus |
Skin | 1 | Skin ulcer |
Age of onset: childhood.
Disease patterns and progression |
20 |
19% |
Research summaries | 19 | 18% |
Clinical study results | 11 | 11% |
Other research | 10 | 10% |
Patient case studies | 7 | 7% |
Testing and diagnosis research | 6 | 6% |
New treatment approaches | 1 | 1% |
Papas EB (2026). [PMID: 41125520](https://pubmed.ncbi.nlm.nih.gov/41125520/). *Cont Lens Anterior Eye*. [Review / Meta-Analysis]
Whitehead GS (2026). [PMID: 41134983](https://pubmed.ncbi.nlm.nih.gov/41134983/). *Am J Respir Cell Mol Biol*. [Basic Science / Preclinical]
Giannakopoulos NN (2026). [PMID: 41719111](https://pubmed.ncbi.nlm.nih.gov/41719111/). *Vascular*. [Review / Meta-Analysis]
Iuliano K (2026). [PMID: 41688679](https://pubmed.ncbi.nlm.nih.gov/41688679/). *Sci Rep*. [Basic Science / Preclinical]
Chen YY (2026). [PMID: 41481707](https://pubmed.ncbi.nlm.nih.gov/41481707/). *Sci Adv*. [Basic Science / Preclinical]
Papasotiriou I (2026). [PMID: 41849134](https://pubmed.ncbi.nlm.nih.gov/41849134/). *High Blood Press Cardiovasc Prev*. [Basic Science / Preclinical]
Peere S (2026). [PMID: 42219243](https://pubmed.ncbi.nlm.nih.gov/42219243/). *Equine Vet J*. [Basic Science / Preclinical]
Wu V (2026). [PMID: 41189322](https://pubmed.ncbi.nlm.nih.gov/41189322/). *J Cutan Med Surg*. [Epidemiology / Natural History]
Tavakoli A (2026). [PMID: 40401608](https://pubmed.ncbi.nlm.nih.gov/40401608/). *Clin Exp Optom*. [Clinical Trial Publication]
Acuña-Caicedo SA (2026). [PMID: 41633533](https://pubmed.ncbi.nlm.nih.gov/41633533/). *J Pediatr (Rio J)*. [Review / Meta-Analysis]
AI-curated news mentioning pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Updated Feb 2, 2026
The National Institute of Arthritis and Musculoskeletal and Skin Diseases has announced a partially closed meeting. This meeting will discuss ongoing research and initiatives related to arthritis and musculoskeletal diseases.
A new CDC study reveals that arthritis significantly affects African-Americans and Hispanics more than whites, leading to increased pain and limitations. This highlights the need for targeted interventions in these communities.
A CDC study reveals that arthritis can hinder physical activity in individuals with heart disease, potentially complicating their management. This finding highlights the need for integrated care approaches addressing both conditions.
A new CDC study reveals that over 50% of adults with diabetes also suffer from arthritis, which hinders their ability to engage in physical activity crucial for diabetes management. This highlights the need for integrated care strategies addressing both conditions.