Living with Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
A rare genetic connective tissue condition with loose skin plus early lung disease and stomach, bowel, and urinary tract problems.
Understanding Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
It causes saggy, wrinkly skin all over the body. People often have an early-onset form of emphysema, a lung problem that makes it hard to breathe. Problems can also affect the stomach, intestines, bladder, and kidneys, including weak spots in the bladder or intestines and swollen kidneys. The heart and blood vessels can be involved, typically with narrowing of the arteries in the lungs. It starts in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loose, wrinkled skin
- Early-onset emphysema
- Hernias
- Pouches in the bladder wall
- Feeding difficulties
- Soft windpipe (tracheomalacia)
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.
- 3Consider genetic testing
Changes in LTBP4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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
It is caused by changes in the LTBP4 gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: arcl1c; arcl1c - autosomal recessive cutis laxa type 1c; autosomal recessive cutis laxa type 1c; cutis laxa, autosomal recessive, type ic; urban rifkin davis syndrome; urban-rifkin-davis syndrome
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 with severe pulmonary, gastrointestinal and urinary anomalies.
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