Living with Cutis laxa, autosomal dominant 1
A rare genetic connective tissue condition with loose, wrinkled skin that gives a prematurely aged look.
Understanding Cutis laxa, autosomal dominant 1
The face, hands, feet, joints, and torso can be affected to varying degrees. The skin does not spring back after being stretched. A distinctive facial look becomes more noticeable with age. Other symptoms can include stomach and bowel problems and hernias, and in rare cases heart and lung problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loose, wrinkled skin
- Hernias
- Emphysema
- Breathing trouble
- Heart problems
- Narrowing of arteries in the lungs
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the ELN gene. It is autosomal dominant, meaning a single changed copy of the gene is enough to cause it.
Also known as: adcl1; autosomal dominant cutis laxa caused by mutation in eln; cutis laxa, autosomal dominant type 1; eln autosomal dominant cutis laxa; eln-related cutis laxa
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Cutis laxa, autosomal dominant 1.
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