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EFEMP2-Related Cutis Laxa.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2011 May 12 [updated 2015 Jul 23].

Excerpt

CLINICAL CHARACTERISTICS:

EFEMP2-related cutis laxa, or autosomal recessive cutis laxa type 1B (ARCL1B), is characterized by cutis laxa and systemic involvement, most commonly arterial tortuosity, aneurysms, and stenosis; retrognathia; joint laxity; and arachnodactyly. Severity ranges from perinatal lethality as a result of cardiopulmonary failure to manifestations limited to the vascular and craniofacial systems.

DIAGNOSIS/TESTING:

The diagnosis of EFEMP2-related cutis laxa is established by clinical diagnostic criteria. Pathogenic variants in EFEMP2 (also known as FBLN4) are causative.

MANAGEMENT:

Treatment of manifestations: Routine repair of hernias; symptomatic treatment of pulmonary emphysema. Treatment of aortic root dilatation with beta-blockers and angiotensin-receptor inhibitors can be considered. Aortic aneurysm replacement has been performed successfully. Joint hypermobility can be supported by muscle-reinforcing physical therapy. Surveillance: Regular cardiovascular and pulmonary follow up starting at birth or at the time of diagnosis. Annual MR angiography from head to pelvis. Agents/circumstances to avoid: Cigarette smoking to avoid worsening of emphysema, sun tanning to protect skin.

GENETIC COUNSELING:

EFEMP2-related cutis laxa is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once an at-risk sib is known to be unaffected, the risk of his/her being a carrier is 2/3. Carrier testing and prenatal diagnosis of EFEMP2-related cutis laxa are possible once the pathogenic variants have been identified in the family.

Copyright © 1993-2017, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

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