Overview
Autoinflammatory syndrome with skin involvement is a group of rare genetic conditions where the body's immune system becomes overactive without an infection or autoimmune trigger. In these conditions, the innate immune system — the body's first line of defense — fires up on its own, causing repeated episodes of inflammation. The skin is one of the main organs affected, leading to rashes, hives, pustules, or other skin lesions that can come and go or persist over time. Many patients also experience fevers, joint pain, and general feelings of being unwell during flare-ups. These syndromes belong to a broader family of autoinflammatory diseases, which includes conditions like familial Mediterranean fever, cryopyrin-associated periodic syndromes (CAPS), and deficiency of interleukin-36 receptor antagonist (DITRA), among others. The specific skin findings can vary widely depending on the exact genetic cause. Some patients develop neutrophilic skin lesions (where a type of white blood cell accumulates in the skin), while others may have psoriasis-like rashes or urticaria-like (hive-like) eruptions. Treatment depends on the specific underlying condition but often involves medications that target inflammatory pathways. Biologic therapies such as IL-1 blockers (anakinra, canakinumab) or IL-17/IL-36 pathway inhibitors may be used. Corticosteroids and conventional immunosuppressants can also help control symptoms. Early diagnosis and treatment are important to prevent long-term damage from chronic inflammation, including amyloidosis in some forms.
Key symptoms:
Recurring skin rashes or lesionsHive-like eruptions on the skinPustules or blisters on the skinRecurring fevers without infectionJoint pain and swellingFatigue and general feeling of being unwellRed, inflamed eyesMouth sores or ulcersSwollen lymph nodesMuscle achesAbdominal painElevated inflammatory markers in blood testsPsoriasis-like skin patchesGrowth delays in children
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Autoinflammatory syndrome with skin involvement.
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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 Autoinflammatory syndrome with skin involvement.
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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.What specific type of autoinflammatory syndrome does my child or I have, and which gene is involved?,What treatment options are available, and what are the potential side effects?,How often will we need blood tests and follow-up visits?,Are there warning signs of complications like amyloidosis that I should watch for?,Should other family members be tested for this condition?,Are there any clinical trials or new treatments being studied for this condition?,What should I do during a severe flare-up — when should I go to the emergency room?
Common questions about Autoinflammatory syndrome with skin involvement
What is Autoinflammatory syndrome with skin involvement?
Autoinflammatory syndrome with skin involvement is a group of rare genetic conditions where the body's immune system becomes overactive without an infection or autoimmune trigger. In these conditions, the innate immune system — the body's first line of defense — fires up on its own, causing repeated episodes of inflammation. The skin is one of the main organs affected, leading to rashes, hives, pustules, or other skin lesions that can come and go or persist over time. Many patients also experience fevers, joint pain, and general feelings of being unwell during flare-ups. These syndromes belon
Which specialists treat Autoinflammatory syndrome with skin involvement?
3 specialists and care centers treating Autoinflammatory syndrome with skin involvement are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.