Systemic disease with skin involvement

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ORPHA:290836
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8Specialists8Treatment centers

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Overview

Systemic disease with skin involvement (Orphanet code 290836) is a broad classification used to describe a group of rare conditions where a disease that affects multiple body systems also causes noticeable changes in the skin. This is not a single disease but rather a category that includes many different disorders. In these conditions, the immune system, blood vessels, connective tissues, or other internal organs may be affected, and the skin serves as a visible window into what is happening inside the body. Skin symptoms can include rashes, thickening or hardening of the skin, color changes, blisters, nodules, or ulcers. Because this is a grouping category rather than one specific disease, the exact symptoms, severity, and course vary widely depending on the underlying condition. Examples of systemic diseases with skin involvement include lupus, scleroderma, sarcoidosis, vasculitis, and certain autoinflammatory or autoimmune syndromes. Patients may experience fatigue, joint pain, organ dysfunction, and skin problems all at the same time. Treatment depends entirely on the specific underlying diagnosis and may range from immune-suppressing medications to targeted biologic therapies. Early and accurate diagnosis is important because timely treatment can help prevent organ damage and improve quality of life.

Key symptoms:

Skin rashes or lesionsThickening or hardening of the skinJoint pain or swellingFatigue and low energyFever without clear infectionSkin color changes or discolorationBlisters or ulcers on the skinSwollen lymph nodesOrgan involvement such as kidney or lung problemsMuscle weakness or painSensitivity to sunlightHair lossRaynaud's phenomenon (fingers turning white or blue in cold)

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Systemic disease with skin involvement.

View clinical trials →

No actively recruiting trials found for Systemic disease with skin involvement at this time.

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

Search ClinicalTrials.gov ↗Join the Systemic disease with skin involvement community →

Specialists

8 foundView all specialists →
SM
Sabrina Hoa, MD
Specialist
PI on 1 active trial
JM
Jeffrey A Golden, MD
Specialist
PI on 1 active trial
MM
Marianna Fabi, MD
Specialist
PI on 1 active trial
AP
Alian TAIEB, Pr.
Specialist
PI on 1 active trial
AP
Alain TAIEB, Pr.
Specialist
PI on 1 active trial
AM
Adela Cardones, MD
DURHAM, NC
Specialist
PI on 2 active trials
HM
Hermine Brunner, MD
CINCINNATI, OH
Specialist
PI on 1 active trial

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 Systemic disease with skin involvement.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Systemic disease with skin involvement

No recent news articles for Systemic disease with skin involvement.

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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.What specific condition do I have within this category, and what is causing my symptoms?,What tests do I need to confirm the diagnosis and check for organ involvement?,What treatment options are available, and what are the potential side effects?,How often will I need follow-up visits and blood tests?,Are there lifestyle changes I should make, such as sun protection or dietary adjustments?,Should I see a genetic counselor or have genetic testing done?,Are there clinical trials or new treatments I should know about?

Common questions about Systemic disease with skin involvement

What is Systemic disease with skin involvement?

Systemic disease with skin involvement (Orphanet code 290836) is a broad classification used to describe a group of rare conditions where a disease that affects multiple body systems also causes noticeable changes in the skin. This is not a single disease but rather a category that includes many different disorders. In these conditions, the immune system, blood vessels, connective tissues, or other internal organs may be affected, and the skin serves as a visible window into what is happening inside the body. Skin symptoms can include rashes, thickening or hardening of the skin, color changes,

Which specialists treat Systemic disease with skin involvement?

8 specialists and care centers treating Systemic disease with skin involvement are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.