Overview
The Orphanet category 'Other metabolic disease with skin involvement' (Orphanet code 79217) is a broad grouping that covers a range of rare inherited metabolic disorders where the body cannot properly process certain substances — and where the skin is one of the main organs affected. These conditions happen when a gene mutation causes a missing or faulty enzyme or protein, leading to a buildup of harmful substances or a shortage of important ones. The skin changes can include unusual rashes, thickening, blistering, color changes, or fragile skin, depending on the specific underlying condition. Because this is a category rather than a single disease, the symptoms, severity, and organs involved vary widely from person to person and from one specific diagnosis to another. Many of these conditions also affect internal organs such as the liver, nervous system, or kidneys. Some examples of diseases that may fall under this umbrella include certain disorders of fatty acid metabolism, amino acid metabolism, or lipid storage that produce visible skin findings alongside systemic symptoms. Treatment depends entirely on the specific metabolic diagnosis. Some conditions have approved therapies such as enzyme replacement, dietary management, or vitamin supplementation. Others are managed mainly by treating symptoms. Early diagnosis through newborn screening or genetic testing is important because starting treatment early can significantly improve outcomes. A team of specialists is usually needed to manage both the metabolic and skin aspects of these conditions.
Key symptoms:
Unusual skin rashes or discolorationThickened, scaly, or rough skin patchesBlistering or fragile skinYellowing of the skin or eyes (jaundice)Abnormal hair or nail changesFatigue and low energyPoor growth or failure to thrive in childrenLiver enlargement or liver problemsNeurological symptoms such as developmental delay or seizuresDigestive problems including vomiting or poor feedingMuscle weaknessSensitivity to sunlightSwelling under the skin
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 Other metabolic disease with skin involvement.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Other metabolic disease with skin involvement at this time.
New trials open frequently. Follow this disease to get notified.
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 Other metabolic disease with skin involvement.
Community
No community posts yet. Be the first to share your experience with Other metabolic disease with skin involvement.
Start the conversation →Latest news about Other metabolic disease with skin involvement
No recent news articles for Other metabolic disease with skin involvement.
Follow this condition to be notified when news becomes available.
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 is the specific metabolic condition causing my symptoms, and how does it affect the skin?,What genetic tests do I need, and should my family members be tested too?,Are there any dietary changes or supplements that could help manage my condition?,What are the warning signs of a metabolic crisis, and what should I do if one happens?,Are there any approved treatments or clinical trials I should know about?,How often do I need follow-up appointments and monitoring tests?,What specialists should be part of my care team, and how do I coordinate between them?
Common questions about Other metabolic disease with skin involvement
What is Other metabolic disease with skin involvement?
The Orphanet category 'Other metabolic disease with skin involvement' (Orphanet code 79217) is a broad grouping that covers a range of rare inherited metabolic disorders where the body cannot properly process certain substances — and where the skin is one of the main organs affected. These conditions happen when a gene mutation causes a missing or faulty enzyme or protein, leading to a buildup of harmful substances or a shortage of important ones. The skin changes can include unusual rashes, thickening, blistering, color changes, or fragile skin, depending on the specific underlying condition.
Which specialists treat Other metabolic disease with skin involvement?
3 specialists and care centers treating Other metabolic disease with skin involvement are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.