Overview
Autoimmune disease with skin involvement (Orphanet code 315350) is a broad category that refers to a group of rare conditions in which the body's immune system mistakenly attacks its own skin and sometimes other organs. In these diseases, the immune system, which normally protects you from infections, becomes confused and produces antibodies or immune cells that target healthy skin tissue. This can lead to a wide range of skin problems including rashes, blisters, thickening or hardening of the skin, color changes, and sores that may be slow to heal. The symptoms and severity can vary greatly depending on the specific type of autoimmune skin disease. Some people experience mild patches of irritated skin, while others may have widespread blistering or scarring that significantly affects their quality of life. In many cases, the skin problems come and go in flares, meaning there are periods when symptoms get worse and periods of improvement. Some of these conditions can also affect internal organs such as the kidneys, lungs, joints, or blood vessels, making regular monitoring important. Treatment typically focuses on calming the overactive immune system and managing symptoms. This may include topical creams, oral medications that suppress the immune system (such as corticosteroids, methotrexate, or mycophenolate), and newer biologic therapies. While many of these conditions cannot be cured, treatments have improved significantly and can help most patients achieve good control of their symptoms and maintain a reasonable quality of life.
Key symptoms:
Skin rashes that come and goBlisters on the skin or mucous membranesItchy or painful skin patchesSkin thickening or hardeningSores or ulcers on the skinRedness and swelling of the skinSensitivity to sunlightHair loss or thinningChanges in skin colorScarring from skin lesionsJoint pain or swellingFatigue and low energyMouth soresDry eyes or dry mouthNail changes or damage
Multifactorial
Caused by a mix of several genes and environmental factors
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
4 eventsNovartis Pharmaceuticals — PHASE1, PHASE2
Oslo University Hospital — NA
Istituti Clinici Scientifici Maugeri SpA — NA
National Institute of Dental and Craniofacial Research (NIDCR)
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Autoimmune disease with skin involvement.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Autoimmune disease with skin involvement 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 Autoimmune disease with skin involvement.
Community
No community posts yet. Be the first to share your experience with Autoimmune disease with skin involvement.
Start the conversation →Latest news about Autoimmune disease with skin involvement
Disease timeline:
New recruiting trial: Characterization of Diseases With Salivary Gland Involvement
A new clinical trial is recruiting patients for Autoimmune disease with skin involvement
New recruiting trial: Home Based Clinical Management of Interstitial Lung Disease in Systemic Rheumatic Diseases
A new clinical trial is recruiting patients for Autoimmune disease with skin involvement
New recruiting trial: A Study to Assess Safety, Cellular Kinetics and Exploratory Efficacy of Rapcabtagene Autoleucel in Rheumatoid Arthritis and Sjogren's Disease
A new clinical trial is recruiting patients for Autoimmune disease with skin involvement
New recruiting trial: Definition of Autonomic Nervous System Involvement in Patients With Multiple Sclerosis
A new clinical trial is recruiting patients for Autoimmune disease with skin involvement
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.What specific type of autoimmune skin disease do I have, and how was it diagnosed?,What treatment options are available, and what are the risks and benefits of each?,How will we monitor for side effects of my medications?,Are there things I should avoid that could trigger a flare, such as sun exposure or certain foods?,Could this condition affect other parts of my body besides my skin?,Are there any clinical trials or newer treatments I should know about?,Should my family members be screened or tested for this condition?
Common questions about Autoimmune disease with skin involvement
What is Autoimmune disease with skin involvement?
Autoimmune disease with skin involvement (Orphanet code 315350) is a broad category that refers to a group of rare conditions in which the body's immune system mistakenly attacks its own skin and sometimes other organs. In these diseases, the immune system, which normally protects you from infections, becomes confused and produces antibodies or immune cells that target healthy skin tissue. This can lead to a wide range of skin problems including rashes, blisters, thickening or hardening of the skin, color changes, and sores that may be slow to heal. The symptoms and severity can vary greatly
How is Autoimmune disease with skin involvement inherited?
Autoimmune disease with skin involvement follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Autoimmune disease with skin involvement?
12 specialists and care centers treating Autoimmune disease with skin involvement are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.