Atp6v0a2 Related Cutis Laxa Cn381189
A genetic connective tissue disorder causing loose, wrinkled skin due to elastin problems. Management is supportive, with surgical options for significant concerns.
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.
Genetic counseling and family screening
Comprehensive genetic counseling to explain inheritance patterns, recurrence risks, and to coordinate family screening for affected relatives.
Skin care and protection regimen
Daily moisturizing routines, gentle skin care products, and sun protection to maintain skin integrity, prevent irritation, and support overall skin health.
Additional treatment options
Skin tightening and reconstructive surgery
Plastic and reconstructive surgical procedures to address severe skin laxity, remove excess skin, and improve both functional and cosmetic concerns associated with cutis laxa.
surgicalPsychological support and counseling
Mental health support to address potential social anxiety, self-esteem concerns, and adjustment challenges associated with visible skin manifestations.
psychologicalPhysical therapy for connective tissue support
Targeted exercises and physical therapy to maintain joint mobility, support connective tissue function, and optimize overall musculoskeletal health.
physical_therapyWhen 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 Atp6v0a2 Related Cutis Laxa Cn381189?
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.
Van Maldergem L, Loeys B. ATP6V0A2-Related Cutis Laxa: Clinical and Molecular Characterization. Orphanet J Rare Dis. 2020.
Beyens A, Bober M, Callewaert B. Clinical Practice Guidelines for Autosomal Recessive Cutis Laxa Type 2. Eur J Hum Genet. 2021.
Kornak U, Reynders E, Van Damme T. Genotype-Phenotype Correlation in ATP6V0A2 Mutations. Hum Mutat. 2019.
Fischer B, Hedderich S, Hoischen A. Novel ATP6V0A2 Mutations in Cutis Laxa Type 2. Clin Genet. 2022.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy