Cutis Laxa

Common Name(s)

Cutis Laxa

Cutis laxa is a connective tissue disorder characterized by skin that is sagging and not stretchy. The skin often hangs in loose folds, causing the face and other parts of the body to have a droopy appearance. Cutis laxa can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines, and lungs. Depending on which organs and tissues are affected, the signs and symptoms can range from mild to life-threatening.
 
There are several different forms of cutis laxa, which are distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. In general, the autosomal recessive forms tend to be more severe than the autosomal dominant form. The X-linked form of cutis laxa is often called occipital horn syndrome. Click on the links below to view information about the different types of cutis laxa.

Cutis laxa, autosomal dominant
Cutis laxa, autosomal recessive type 1
Cutis laxa, autosomal recessive type 2A
Cutis laxa, autosomal recessive type 2B
Occipital horn syndrome
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cutis Laxa" for support, advocacy or research.

Cutis Laxa Internationale

Our mission is to break the sufferers' loneliness and isolation, to support research and to disseminate information on Cutis Laxa by all means.

Last Updated: 8 Oct 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cutis Laxa" for support, advocacy or research.

Cutis Laxa Internationale

Our mission is to break the sufferers' loneliness and isolation, to support research and to disseminate information on Cutis Laxa by all means.

http://www.cutislaxa.org

Last Updated: 8 Oct 2015

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cutis Laxa" returned 82 free, full-text research articles on human participants. First 3 results:

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
 

Author(s): Björn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, Yu Xuan Tan, Mohammed Al Bughaili, Angela E Lin, Inderneel Sahai, Paulina Bahena, Sara L Reichert, Abigail Loh, Graham D Wright, Jaron Liu, Elisa Rahikkala, Eniko K Pivnick, Asim F Choudhri, Ulrike Krüger, Tomasz Zemojtel, Conny van Ravenswaaij-Arts, Roya Mostafavi, Irene Stolte-Dijkstra, Sofie Symoens, Leila Pajunen, Lihadh Al-Gazali, David Meierhofer, Peter N Robinson, Stefan Mundlos, Camilo E Villarroel, Peter Byers, Amira Masri, Stephen P Robertson, Ulrike Schwarze, Bert Callewaert, Bruno Reversade, Uwe Kornak

Journal: Am. J. Hum. Genet.. 2015 Sep;97(3):483-92.

 

Progeroid disorders overlapping with De Barsy syndrome (DBS) are collectively denoted as autosomal-recessive cutis laxa type 3 (ARCL3). They are caused by biallelic mutations in PYCR1 or ALDH18A1, encoding pyrroline-5-carboxylate reductase 1 and pyrroline-5-carboxylate synthase (P5CS), ...

Last Updated: 5 Sep 2015

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Fibulin-4 E57K Knock-in Mice Recapitulate Cutaneous, Vascular and Skeletal Defects of Recessive Cutis Laxa 1B with both Elastic Fiber and Collagen Fibril Abnormalities.
 

Author(s): Olga Igoucheva, Vitali Alexeev, Carmen M Halabi, Sheila M Adams, Ivan Stoilov, Takako Sasaki, Machiko Arita, Adele Donahue, Robert P Mecham, David E Birk, Mon-Li Chu

Journal: J. Biol. Chem.. 2015 Aug;290(35):21443-59.

 

Fibulin-4 is an extracellular matrix protein essential for elastic fiber formation. Frameshift and missense mutations in the fibulin-4 gene (EFEMP2/FBLN4) cause autosomal recessive cutis laxa (ARCL) 1B, characterized by loose skin, aortic aneurysm, arterial tortuosity, lung emphysema, ...

Last Updated: 31 Aug 2015

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Cutis Laxa syndrome: a case report.
 

Author(s): Mohamed Hbibi, Sana Abourazzak, Mounia Idrissi, Sana Chaouki, Samir Atmani, Moustapha Hida

Journal:

 

Cutis laxa (CL) is a heterogeneous group of inherited and acquired connective tissue disorders characterized by a loose skin and variable systemic involvement (inguinal hernia, cardiopulmonary disease, and emphysema). Autosomal dominant, autosomal recessive and x-linked recessive ...

Last Updated: 21 May 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cutis Laxa" returned 8 free, full-text review articles on human participants. First 3 results:

[Acquired cutis laxa associated with monoclonal gammopathy and lambda light chain deposition disease].
 

Author(s): Antonio J Gonzalez-Rodriguez, Rebeca Bella-Navarro, Dolores Ramon Quiles, Esperanza Jorda-Cuevas

Journal:

 

Cutis laxa is a rare entity characterized clinically by redundant skin that gives an appearance of premature aging. The appearance relates to a loss of elasticity because of the destruction of elastic fibers that affects the skin and other organs. It may be associated with inflammatory ...

Last Updated: 23 May 2014

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Cutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolism.
 

Author(s): Zsolt Urban, Elaine C Davis

Journal: Matrix Biol.. 2014 Jan;33():16-22.

 

Cutis laxa (CL), a disease characterized by redundant and inelastic skin, displays extensive locus heterogeneity. Together with geroderma osteodysplasticum and arterial tortuosity syndrome, which show phenotypic overlap with CL, eleven CL-related genes have been identified to date, ...

Last Updated: 24 Feb 2014

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Last Updated: 16 Nov 2012

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Topical Bimatoprost for Chemical Blepharoplasty
 

Status: Not yet recruiting

Condition Summary: Dermatochalasis

 

Last Updated: 8 Jul 2016

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Safety and Effectiveness Evaluation of the Device in Achieving Submental Lift
 

Status: Recruiting

Condition Summary: Skin Laxity

 

Last Updated: 11 Jul 2016

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Simulines Non-Inferiority Pivotal Study
 

Status: Recruiting

Condition Summary: Skin Laxity

 

Last Updated: 7 Apr 2016

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