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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General Support Organizations

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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

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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 78 free, full-text research articles on human participants. First 3 results:

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
 

Author(s): Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed, Sergio Guerrero-Castillo, Peter Freisinger, Brecht Guillemyn, Ariana Kariminejad, Daisy Dalloyaux, Sanne van Kraaij, Dirk J Lefeber, Delfien Syx, Wouter Steyaert, Riet De Rycke, Alexander Hoischen, Erik-Jan Kamsteeg, Sunnie Y Wong, Monique van Scherpenzeel, Payman Jamali, Ulrich Brandt, Leo Nijtmans, G Christoph Korenke, Brian H Y Chung, Christopher C Y Mak, Ingrid Hausser, Uwe Kornak, Björn Fischer-Zirnsak, Tim M Strom, Thomas Meitinger, Yasemin Alanay, Gulen E Utine, Peter K C Leung, Siavash Ghaderi-Sohi, Paul Coucke, Sofie Symoens, Anne De Paepe, Christian Thiel, Tobias B Haack, Fransiska Malfait, Eva Morava, Bert Callewaert, Ron A Wevers

Journal: Am. J. Hum. Genet.. 2017 Feb;100(2):216-227.

 

Defects of the V-type proton (H(+)) ATPase (V-ATPase) impair acidification and intracellular trafficking of membrane-enclosed compartments, including secretory granules, endosomes, and lysosomes. Whole-exome sequencing in five families affected by mild to severe cutis laxa, dysmorphic ...

Last Updated: 9 Jan 2017

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Clinical presentation of a patient with cutis laxa with systemic involvement: a case report.
 

Author(s): Doina Ecaterina Tofolean, Laura Mazilu, Florica Stăniceanu, Liliana Mocanu, Andra Iulia Suceveanu, Radu Octavian Baz, Raluca Irinel Parepa, Adrian Paul Suceveanu, Simona Bondari, Dan Bondari, Felix Voinea

Journal: Rom J Morphol Embryol. 2015 ;56(3):1205-10.

 

Cutis laxa (CL) or elastolysis is a rare inherited or acquired connective tissue disorder in which the skin becomes inelastic and hangs loosely in folds (Mitra et al., 2013). The clinical presentation and the type of inheritance show considerable heterogeneity (Shehzad et al., 2010). ...

Last Updated: 15 Dec 2015

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Developmental retardation in postinflammatory elastolysis and cutis laxa.
 

Author(s): Prafulla Kumar Sharma, Neha Meena, Minakshi Bhardwaj, Niharika Dixit

Journal: Indian J Dermatol Venereol Leprol. ;82(2):195-7.

 

Last Updated: 29 Feb 2016

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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 10 free, full-text review articles on human participants. First 3 results:

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.
 

Author(s): Ariana Kariminejad, Fariba Afroozan, Bita Bozorgmehr, Alireza Ghanadan, Susan Akbaroghli, Hamid Reza Khorram Khorshid, Faezeh Mojahedi, Aria Setoodeh, Abigail Loh, Yu Xuan Tan, Nathalie Escande-Beillard, Fransiska Malfait, Bruno Reversade, Thatjana Gardeitchik, Eva Morava

Journal:

 

Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. Three of the autosomal recessive cutis laxa syndromes, ...

Last Updated: 15 Mar 2017

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Generalized acquired cutis laxa type 1: a case report and brief review of literature.
 

Author(s): Piyush Kumar, Sushil S Savant, Anupam Das

Journal:

 

Cutis laxa, clinically characterized by loose and pendulous skin related to loss of elastic tissue, is a rare heterogeneous condition. It is classified into congenital and acquired types. We report a case of generalized acquired cutis laxa type 1 in a young man following pruritic ...

Last Updated: 4 May 2016

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[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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Clinical Trial Information This information is provided by ClinicalTrials.gov

Gene Expression Following Ultherapy® Treatment
 

Status: Recruiting

Condition Summary: Skin Laxity

 

Last Updated: 1 May 2017

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Evaluation of Ocular Surface Changes Following RF Electrocoagulation Treatment of the Periorbital Region
 

Status: Recruiting

Condition Summary: Skin Laxity; Meibomian Gland Dysfunction

 

Last Updated: 8 Sep 2017

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Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency
 

Status: Recruiting

Condition Summary: Menkes Disease; Occipital Horn Syndrome

 

Last Updated: 12 Sep 2017

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