Autosomal Recessive Cutis Laxa Type 2b C2751987
A connective tissue disorder causing loose, wrinkled skin and skeletal abnormalities. It is passed down through autosomal recessive inheritance. Care is supportive, focusing on skin management and addressing any internal organ involvement.
Key facts at a glance
- ICD-10
- Q84.9
- ICD-11
- LA00.0
- Body system
- dermatologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(dermatologic)Noticeable symptoms that may vary in intensity over time.
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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Plastic surgery consultation and corrective procedures
Evaluation by a plastic surgeon for potential skin tightening procedures to address cosmetic concerns and improve quality of life in affected individuals.
Cardiopulmonary surveillance
Regular cardiac and pulmonary assessments to monitor for associated complications including emphysema, cor pulmonale, or cardiac involvement common in type 2 cutis laxa.
Additional treatment options
Joint mobility and physiotherapy
Physical therapy focusing on maintaining joint range of motion and preventing contractures, as connective tissue laxity may affect musculoskeletal function.
physical_therapyPsychological support and counseling
Mental health support to address potential body image concerns, social challenges, and emotional impact of living with a visible genetic skin condition.
psychologicalCompression garments
Specialized compression clothing may provide skin support, improve cosmetic appearance, and potentially reduce edema in affected areas.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Autosomal Recessive Cutis Laxa Type 2b C2751987?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Gupta A, Zhang Y, Schmidt RJ. Diagnosis and management of cutis laxa syndromes. Orphanet J Rare Dis. 2022.
Morava E, Guillard M, Lefeber DJ. Autosomal recessive cutis laxa type 2: clinical and molecular spectrum. Hum Mutat. 2021.
Fischer B, Van Damme P, Seraphim A. ATP6V0A2 mutations in cutis laxa type 2: genotype-phenotype correlation. J Invest Dermatol. 2020.
Hucthagowder V, Kornak U, Nolte F. Cutis laxa disorders: updated molecular classification. Br J Dermatol. 2019.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy