Overview
PAPA syndrome stands for Pyogenic Arthritis, Pyoderma gangrenosum, and Acne syndrome. It is a very rare inherited inflammatory disease that causes the immune system to become overactive and attack the body's own tissues. The name describes the three main problems it causes: painful joint inflammation (arthritis), severe skin ulcers (pyoderma gangrenosum), and stubborn, severe acne. PAPA syndrome is also sometimes called PAPA autoinflammatory syndrome. The disease belongs to a group of conditions called autoinflammatory syndromes, where the immune system fires up without a clear infection or trigger. In PAPA syndrome, a faulty gene causes a protein involved in controlling inflammation to malfunction, leading to repeated flares of swelling and tissue damage. The arthritis usually starts in childhood and can damage joints over time. The skin problems, including deep painful ulcers and cystic acne, often become more prominent in the teenage years and adulthood. Treatment focuses on calming the overactive immune system. Doctors often use corticosteroids, drugs that block a protein called IL-1 (such as anakinra or canakinumab), or drugs that block TNF (such as adalimumab or etanercept). There is no cure, but with the right treatment many people can reduce flares and protect their joints and skin from long-term damage.
Key symptoms:
Recurring painful, swollen joints (especially knees, ankles, and elbows)Deep, painful skin ulcers that are slow to heal (pyoderma gangrenosum)Severe cystic acne, often on the face, chest, and backSkin wounds that worsen after minor injury or surgery (a reaction called pathergy)Fever during inflammatory flaresJoint damage and scarring over time if untreatedSkin scarring after ulcers healFatigue during flaresSwollen lymph nodes in some casesElevated inflammatory markers in blood tests during flares
Clinical phenotype terms (15)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
FDA & Trial Timeline
10 eventsNantes University Hospital
Poitiers University Hospital
University Hospital, Lille
dsm-firmenich Switzerland AG — NA
Haute Ecole Ilya Prigogine — NA
University Hospital, Lille
Centre Hospitalier Annecy Genevois — PHASE3
University Hospital, Bordeaux
University Hospital, Bordeaux
Assistance Publique - Hôpitaux de Paris
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for PAPA syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for PAPA syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to PAPA syndrome.
Community
No community posts yet. Be the first to share your experience with PAPA syndrome.
Start the conversation →Latest news about PAPA syndrome
Disease timeline:
New recruiting trial: Study on Aspirin Versus Placebo in Resected Colon Cancer With PI3K Mutation Stage III or II High Risk
A new clinical trial is recruiting patients for PAPA syndrome
New recruiting trial: Impact of the Mylife CamAPS FX System With the DEXCOM G6 Sensor on T1D Patients in France
A new clinical trial is recruiting patients for PAPA syndrome
New recruiting trial: A Study to Learn About Abrocitinib in Adult Patients With Moderate to Severe Atopic Dermatitis.
A new clinical trial is recruiting patients for PAPA syndrome
New recruiting trial: French Register Of Patients With Hemopathy Eligible For CAR-T Cell Treatment (DESCAR-T)
A new clinical trial is recruiting patients for PAPA syndrome
New recruiting trial: French Translation/Adaptation of AHEMD-SR (FR-AHEMD)
A new clinical trial is recruiting patients for PAPA syndrome
New recruiting trial: Overview of Knowledge and Practices Among Healthcare Professionals Treating Eating Disorders
A new clinical trial is recruiting patients for PAPA syndrome
New recruiting trial: Hospital Based Registry of Childhood Cancer in Pediatric Oncology Units in French Speaking Africa
A new clinical trial is recruiting patients for PAPA syndrome
New recruiting trial: Analysis of the Effectiveness and Safety of Lorlatinib in Untreated ALK-Positive NSCLC Patients in a French Real-World Context
A new clinical trial is recruiting patients for PAPA syndrome
New recruiting trial: Infant Feeding in French Guiana
A new clinical trial is recruiting patients for PAPA syndrome
New recruiting trial: Rectal Carriage of Carbapenemase Producing-Enterobacteriaceae on Admission to a French University Teaching Hospital
A new clinical trial is recruiting patients for PAPA syndrome
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which treatment do you recommend for my specific symptoms, and what are the risks and benefits?,How will we know if the treatment is working, and what should I do if I have a flare while on medication?,Should other family members be tested for the PSTPIP1 gene mutation?,Are there any clinical trials for PAPA syndrome that I might be eligible for?,What signs of complications or side effects from treatment should I watch for?,How can I protect my joints from long-term damage?,Are there any lifestyle changes, such as diet or exercise, that might help reduce flares?
Common questions about PAPA syndrome
What is PAPA syndrome?
PAPA syndrome stands for Pyogenic Arthritis, Pyoderma gangrenosum, and Acne syndrome. It is a very rare inherited inflammatory disease that causes the immune system to become overactive and attack the body's own tissues. The name describes the three main problems it causes: painful joint inflammation (arthritis), severe skin ulcers (pyoderma gangrenosum), and stubborn, severe acne. PAPA syndrome is also sometimes called PAPA autoinflammatory syndrome. The disease belongs to a group of conditions called autoinflammatory syndromes, where the immune system fires up without a clear infection or t
How is PAPA syndrome inherited?
PAPA syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does PAPA syndrome typically begin?
Typical onset of PAPA syndrome is childhood. Age of onset can vary across affected individuals.
Which specialists treat PAPA syndrome?
7 specialists and care centers treating PAPA syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.