Living with Cutis laxa
A connective tissue condition with loose, sagging skin that can also affect the heart, blood vessels, intestines, and lungs.
Understanding Cutis laxa
The name means loose skin in Latin, and the skin sags and is not stretchy, often hanging in loose folds. This gives a droopy or wrinkled look. It can also affect the heart, blood vessels, intestines, and lungs, with heart problems, hernias, pouches in organ walls, and a lung disease called emphysema. Most cases are inherited, and some are acquired. Signs range from mild to serious depending on the organs affected.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary mentions these:
- Loose, sagging, inelastic skin
- Droopy or wrinkled look
- Heart problems
- Hernias
- Pouches in bladder or intestine walls
- Emphysema (a lung disease)
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 inherited cutis laxa. Inheritance may be autosomal dominant, autosomal recessive, or X-linked, depending on the form. Some cases are acquired and not caused by genetic changes.
Also known as: chalazoderma; chalazodermia; cutaneous laxity; dermatochalasia; dermatolysis; dermatomegaly
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.
Explore research for Cutis laxa
Explore actively recruiting Cutis laxa studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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