Cutis Laxa Autosomal Recessive Type 1d C5935602
A rare genetic form of cutis laxa with deficiency of fibulin-5, affecting elastic tissue in skin and organs. Symptoms include loose skin and potential lung or heart concerns. Treatment is supportive.
Key facts at a glance
- ICD-10
- Q84.9
- ICD-11
- LA00.0
- Body system
- dermatologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(dermatologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Cosmetic Surgical Intervention
Elective surgical procedures to remove redundant skin tissue in affected areas such as face, neck, and trunk to improve function and appearance.
Pulmonary Function Testing
Regular pulmonary assessments including spirometry and imaging to monitor for emphysema-like lung changes and diaphragmatic weakness associated with type 1D.
When to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Cutis Laxa Autosomal Recessive Type 1d C5935602?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy