Overview
Genetic skin vascular disorder (Orphanet code 183478) is a broad category that refers to a group of rare inherited conditions affecting the blood vessels in the skin. These disorders cause abnormalities in how blood vessels form, grow, or function within the skin and sometimes in deeper tissues. Patients may notice visible changes on the skin such as red, purple, or blue marks, patches, or raised areas caused by abnormal blood vessels. Some of these conditions are present at birth, while others develop during childhood or later in life. The severity of these disorders varies widely. Some people have only mild cosmetic concerns, while others may experience pain, bleeding, swelling, or complications if internal organs are also affected. The blood vessel abnormalities can range from small capillary malformations (sometimes called port-wine stains) to larger venous or arteriovenous malformations that may grow over time. Treatment depends on the specific type of vascular disorder and its severity. Options may include laser therapy to reduce visible skin marks, medications to slow abnormal vessel growth, compression garments, or surgical procedures. In recent years, targeted drug therapies such as sirolimus (rapamycin) have shown promise for certain vascular anomalies. Because this is a group of conditions rather than a single disease, management is highly individualized and often requires a team of specialists working together.
Key symptoms:
Red, purple, or blue skin marks or patchesVisible blood vessels on the skin surfaceSkin swelling or lumpsWarm areas on the skin over abnormal vesselsPain or tenderness in affected areasBleeding from skin lesionsSkin ulcers or sores that are slow to healAsymmetric growth of a limb or body partSkin discoloration that changes with position or temperatureThickening or hardening of the skin in affected areasEasy bruisingFatigue if bleeding is significant
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
3 eventsLohmann & Rauscher — NA
Shanghai Jiao Tong University School of Medicine
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Genetic skin vascular disorder.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Genetic skin vascular disorder 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 Genetic skin vascular disorder.
Community
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Start the conversation →Latest news about Genetic skin vascular disorder
Disease timeline:
New recruiting trial: Multicenter, Randomized, Non-inferiority Study to Compare the Performance and Safety of Debrisoft® Duo With Debrisoft® Pad in the Debridement of Wounds
A new clinical trial is recruiting patients for Genetic skin vascular disorder
New recruiting trial: Multi-modal Quantitative Imaging of the Skin
A new clinical trial is recruiting patients for Genetic skin vascular disorder
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 vascular disorder does my child or I have, and what gene is involved?,Will this condition get worse over time, and how should we monitor for changes?,What treatment options are available, and what are the risks and benefits of each?,Are there any activities or situations we should avoid to prevent complications?,Should other family members be tested for this condition?,Are there any clinical trials or new therapies we should know about?,What emergency signs should prompt us to seek immediate medical care?
Common questions about Genetic skin vascular disorder
What is Genetic skin vascular disorder?
Genetic skin vascular disorder (Orphanet code 183478) is a broad category that refers to a group of rare inherited conditions affecting the blood vessels in the skin. These disorders cause abnormalities in how blood vessels form, grow, or function within the skin and sometimes in deeper tissues. Patients may notice visible changes on the skin such as red, purple, or blue marks, patches, or raised areas caused by abnormal blood vessels. Some of these conditions are present at birth, while others develop during childhood or later in life. The severity of these disorders varies widely. Some peop
Which specialists treat Genetic skin vascular disorder?
16 specialists and care centers treating Genetic skin vascular disorder are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.