Overview
Arterial dissection-lentiginosis syndrome is an extremely rare genetic condition that affects both the blood vessels and the skin. The syndrome combines two main features: arterial dissections and lentigines. Arterial dissections occur when the inner lining of an artery tears, allowing blood to flow between the layers of the artery wall. This can happen in various arteries throughout the body and can be life-threatening, especially when it involves arteries supplying the brain or heart. Lentigines are small, flat, dark spots on the skin — similar in appearance to freckles but typically darker and more defined. They can appear on various parts of the body. This condition belongs to a group of disorders that affect connective tissue, which provides structural support to blood vessels, skin, and other organs. Because the arterial walls are weakened, patients are at increased risk for spontaneous tears (dissections) in their arteries, which can lead to stroke, organ damage, or internal bleeding. The skin findings, while not dangerous on their own, serve as an important clinical clue that can help doctors recognize the syndrome. There is currently no cure for arterial dissection-lentiginosis syndrome. Treatment focuses on preventing arterial complications, managing blood pressure, and monitoring for new dissections. Patients typically require lifelong follow-up with multiple specialists. Early recognition of the condition is important so that preventive measures can be put in place to reduce the risk of serious vascular events.
Key symptoms:
Dark flat spots on the skin (lentigines)Tearing of artery walls (arterial dissections)Stroke or mini-stroke symptomsSudden severe headacheNeck painHigh blood pressureAbnormal appearance of blood vesselsSkin freckling or spotting in unusual patternsWeakness or numbness on one side of the bodyAbdominal pain from internal artery dissection
Clinical phenotype terms (4)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
1 availableTamoxifen Citrate
Tamoxifen citrate tablets are indicated to reduce the incidence of breast cancer in women at high risk for breast cancer.
Clinical Trials
View all trials with filters →No actively recruiting trials found for Arterial dissection-lentiginosis syndrome at this time.
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Specialists
View all specialists →No specialists are currently listed for Arterial dissection-lentiginosis syndrome.
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
Financial Resources
1 resourcesTravel Grants
No travel grants are currently matched to Arterial dissection-lentiginosis syndrome.
Community
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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.How often should imaging of my arteries be done to check for new dissections?,What physical activities are safe for me, and which should I avoid?,What are the warning signs of an arterial dissection or stroke that I should watch for?,Should my family members be screened for this condition?,What medications do you recommend to reduce my risk of arterial complications?,Are there any clinical trials or research studies I could participate in?,How should I prepare an emergency plan in case of a sudden vascular event?
Common questions about Arterial dissection-lentiginosis syndrome
What is Arterial dissection-lentiginosis syndrome?
Arterial dissection-lentiginosis syndrome is an extremely rare genetic condition that affects both the blood vessels and the skin. The syndrome combines two main features: arterial dissections and lentigines. Arterial dissections occur when the inner lining of an artery tears, allowing blood to flow between the layers of the artery wall. This can happen in various arteries throughout the body and can be life-threatening, especially when it involves arteries supplying the brain or heart. Lentigines are small, flat, dark spots on the skin — similar in appearance to freckles but typically darker
How is Arterial dissection-lentiginosis syndrome inherited?
Arterial dissection-lentiginosis syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.