PASH syndrome

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Overview

PASH syndrome stands for Pyoderma gangrenosum, Acne, and Suppurative Hidradenitis. It is a rare autoinflammatory skin condition where the immune system causes excessive inflammation in the skin without an infection being present. The three hallmark features are pyoderma gangrenosum (painful skin ulcers that can grow rapidly), severe acne, and hidradenitis suppurativa (painful, recurring lumps and abscesses typically in the armpits, groin, and under the breasts). These three conditions occurring together define the syndrome. PASH syndrome belongs to a family of related autoinflammatory conditions that also includes PAPA syndrome and PAPASH syndrome. The exact cause is not fully understood, but it appears to involve overactivation of the innate immune system, particularly involving a protein complex called the inflammasome, which leads to excessive production of inflammatory signals like interleukin-1 (IL-1). Some patients have been found to carry variations in genes related to inflammation, but no single gene has been definitively identified as the cause in all cases. Treatment focuses on controlling inflammation and managing symptoms. Options include immunosuppressive medications such as corticosteroids, cyclosporine, dapsone, and biologic therapies that target specific inflammatory pathways, particularly IL-1 and TNF-alpha inhibitors like anakinra and adalimumab. Response to treatment varies among patients, and finding the right combination of therapies can take time. Because the disease is chronic and relapsing, long-term management with a team of specialists is usually necessary.

Also known as:

Key symptoms:

Painful, rapidly growing skin ulcers (pyoderma gangrenosum)Severe cystic acne, often on the face and backRecurring painful lumps and abscesses in the armpits, groin, or buttocksDraining skin tunnels (sinus tracts) under the skinScarring from repeated skin flaresSkin pain and tendernessPus-filled bumps or boilsSkin wounds that heal very slowlyWorsening of skin wounds after surgery or skin trauma (pathergy)Redness and swelling around affected skin areasFoul-smelling drainage from skin lesionsFatigue related to chronic inflammation

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for PASH syndrome.

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No actively recruiting trials found for PASH syndrome at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the PASH syndrome community →

No specialists are currently listed for PASH syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to PASH syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about PASH syndrome

No recent news articles for PASH syndrome.

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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 of my symptoms are most urgent to treat first?,What biologic or immunosuppressive therapy do you recommend, and what are the risks and benefits?,How should I care for my skin ulcers at home to promote healing?,Are there any surgical procedures I should avoid because of the risk of pathergy?,Should I have genetic testing, and would it change my treatment plan?,What signs of infection should I watch for while on immunosuppressive medications?,Can you refer me to a mental health professional experienced with chronic skin conditions?

Common questions about PASH syndrome

What is PASH syndrome?

PASH syndrome stands for Pyoderma gangrenosum, Acne, and Suppurative Hidradenitis. It is a rare autoinflammatory skin condition where the immune system causes excessive inflammation in the skin without an infection being present. The three hallmark features are pyoderma gangrenosum (painful skin ulcers that can grow rapidly), severe acne, and hidradenitis suppurativa (painful, recurring lumps and abscesses typically in the armpits, groin, and under the breasts). These three conditions occurring together define the syndrome. PASH syndrome belongs to a family of related autoinflammatory conditi

At what age does PASH syndrome typically begin?

Typical onset of PASH syndrome is adult. Age of onset can vary across affected individuals.