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: 3 Mar 2013

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General Support Organizations

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How do you compare to others with this condition?

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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://asso.orpha.net/cutislax/gb01-cutis_laxa_homepage.htm

Last Updated: 3 Mar 2013

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

A novel elastin gene mutation in a Vietnamese patient with cutis laxa.
 

Author(s): Mark L Siefring, Elizabeth C Lawrence, Tom C Nguyen, Doanh Lu, Giang Pham, Christa Lorenchick, Kara L Levine, Zsolt Urban

Journal: Pediatr Dermatol. ;31(3):347-9.

 

We report a 3-year-old girl from Vietnam with severe congenital cutis laxa; no cardiovascular, pulmonary, neurologic, or visceral involvement; and no family history of cutis laxa. Mutational analysis of the elastin gene identified heterozygosity for a previously unreported de novo ...

Last Updated: 24 Apr 2014

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Primary systemic amyloidosis, acquired cutis laxa and cutaneous mucinosis in a patient with multiple myeloma.
 

Author(s): Fernanda Guedes Lavorato, Maria de Fátima Guimarães Scotelaro Alves, Juan Manuel Piñeiro Maceira, Natasha Unterstell, Laura Araújo Serpa, Luna Azulay-Abulafia

Journal: An Bras Dermatol. ;88(6 Suppl 1):32-5.

 

A 57-year-old woman presented with periorbital ecchymoses, laxity in skin folds, polyneuropathy and bilateral carpal tunnel syndrome. A skin biopsy of the axillary lesion demonstrated fragmentation of elastic fibers, but with a negative von Kossa stain, consistent with cutis laxa. ...

Last Updated: 18 Dec 2013

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Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2.
 

Author(s): D Z Scherrer, M B Baptista, A H B Matos, C V Maurer-Morelli, C E Steiner

Journal: Eur J Med Genet. 2013 Jun;56(6):336-9.

 

Last Updated: 3 Jun 2013

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

Last Updated: 16 Nov 2012

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Metabolic cutis laxa syndromes.
 

Author(s): Miski Mohamed, Dorus Kouwenberg, Thatjana Gardeitchik, Uwe Kornak, Ron A Wevers, Eva Morava

Journal: J. Inherit. Metab. Dis.. 2011 Aug;34(4):907-16.

 

Cutis laxa is a rare skin disorder characterized by wrinkled, redundant, inelastic and sagging skin due to defective synthesis of elastic fibers and other proteins of the extracellular matrix. Wrinkled, inelastic skin occurs in many cases as an acquired condition. Syndromic forms ...

Last Updated: 18 Jul 2011

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Autosomal recessive cutis laxa syndrome revisited.
 

Author(s): Eva Morava, Maïlys Guillard, Dirk J Lefeber, Ron A Wevers

Journal: Eur. J. Hum. Genet.. 2009 Sep;17(9):1099-110.

 

The clinical spectrum of the autosomal recessive cutis laxa syndromes is highly heterogeneous with respect to organ involvement and severity. One of the major diagnostic criteria is to detect abnormal elastin fibers. In several other clinically similar autosomal recessive syndromes, ...

Last Updated: 20 Aug 2009

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Symptoms, Diagnosis, and Treatment

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

Combination of Ultrasound Treatment and Neck Liposuction for Skin Tightening
 

Status: Not yet recruiting

Condition Summary: Skin Laxity

 

Last Updated: 14 Aug 2014

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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; Unexplained Copper Deficiency

 

Last Updated: 4 Oct 2014

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Levator Muscle Strength Evaluation
 

Status: Not yet recruiting

Condition Summary: Ptosis

 

Last Updated: 23 Aug 2014

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