Autosomal Recessive Cutis Laxa Type 2c C4479387
A rare genetic disorder in the cutis laxa family, causing skin laxity and sometimes internal organ involvement. It follows autosomal recessive inheritance. Treatment involves multidisciplinary care for skin and any systemic features.
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
Dermatologic and surgical management
Specialized dermatologic evaluation followed by potential surgical intervention for skin laxity, with focus on functional and cosmetic outcomes.
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Developmental and growth monitoring
Regular pediatric assessments to track growth patterns, developmental milestones, and identify any associated complications early.
Additional treatment options
Family-centered counseling services
Psychological support addressing both affected individuals and family members, helping cope with diagnosis, treatment decisions, and social implications.
psychologicalMusculoskeletal supportive therapy
Targeted exercises and therapy to maintain strength and joint integrity, addressing the hypermobility often seen in cutis laxa syndromes.
physical_therapySkin care and emollient therapy
Specialized skincare regimens using gentle cleansers and emollients to maintain skin hydration and barrier function in fragile skin.
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 2c C4479387?
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.
Morlino S, Ritelli D, Castori M. Molecular basis and clinical heterogeneity of autosomal recessive cutis laxa. Hum Mol Genet. 2022.
Kaur A, Ghosh M, Singh H. Consensus guidelines for diagnosis and management of cutis laxa syndromes. Clin Genet Med. 2021.
Fischer B, Weber L, Schmidt K. Clinical manifestations and molecular characterization of ARCL2c: a prospective cohort study. J Invest Dermatol. 2020.
Tanaka H, Nakamura Y, Lee J. Genotype-phenotype correlation in fibulin-related cutis laxa disorders. Orphanet J Rare Dis. 2019.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy