Living with Cutis laxa, autosomal dominant
A rare connective tissue condition with wrinkled, sagging skin, sometimes with internal organ involvement.
Understanding Cutis laxa, autosomal dominant
Some people have internal organ involvement. It can include heart valve leaks, a bulge in the aorta (aortic aneurysm), hernias, and loose joints. The skin may look prematurely aged. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loose, sagging, inelastic skin
- Premature skin wrinkling
- Hernias
- Loose joints
- Heart valve leaks
- Bulge in the aorta (aortic aneurysm)
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
Specialists who may be involved include autoimmune and inflammatory disease specialists, bone and joint specialists, digestive system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- 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 Children's Skin Disease Foundation
- 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
GARD says changes in genes cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it. GARD doesn't name a gene.
Also known as: adcl; autosomal dominant cutis laxa; cutis laxa, dominant type
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- 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.
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