Cutis laxa: Introduction
Cutis laxa is a very rare, degenerative disorder. Cutis laxa is the Latin term for "lax skin". The hallmark of the disorder is unusually loose, sagging and inelastic skin.
Cutis laxa is a disorder that affects the connective tissues of the body. The connective tissues create the supportive structure and strength of the skin, muscles, organs and joints. Cutis laxa causes a loss of the elastic fibers that make up connective tissue. In addition to causing loose, pendulous skin folds, cutis laxa can affect the connective tissues that are found throughout the body, including those found in important organs, such as the lungs, heart, blood vessels and intestines. In some cases, this can result in serious complications of the respiratory and cardiovascular systems.
There are a variety of forms of cutis laxa. Some forms of cutis laxa are genetic and are inherited. There are also acquired forms of cutis laxa. Acquired cutis laxa can occur due to such causes as a drug reaction or to an inflammatory process, such as eczema. People treated for Wilson's disease are at risk for developing cutis laxa. The disorder affects males and females and persons of all races equally.
Symptoms of cutis laxa can begin during infancy or at any time during life. The symptoms and severity of cutis laxa vary greatly between individuals depending on the underlying type of cutis laxa. Symptoms can be mild and only affect the skin.
In more severe cases, serious complications can occur. This include emphysema, diverticula of the intestines and cor pulmonale. In some cases complications can be life-threatening, even fatal. For more details on symptoms and complications, refer to symptoms of cutis laxa.
Making a diagnosis of cutis laxa includes taking a thorough personal and family history, including symptoms, and completing a physical examination.
The skin is examined for the characteristic hanging folds of skin. On stretching, the skin is inelastic and does not recoil to its normal shape as does normal skin. Skin folds appear most severely around the face, eyes, neck, shoulders, and thighs.
There is no specific test to diagnose cutis laxa. Diagnosis is often made by examination of the skin and a history of progressively sagging and laxity of the skin. A biopsy of the skin may also be done. In a biopsy, a small sample of the skin is taken to be examined in the laboratory.
A variety of other tests may be performed to evaluate overall heath and check for possible complications, such as cor pulmonale, anemia, emphysema, gastrointestinal diverticula, congestive heart failure, cardiomegaly, osteoporosis, hernias and aortic aneurysm. Testing may include echocardiogram, pulmonary function tests, chest X-ray and blood tests, such as a complete blood count and chemistry panel.
It is possible that a diagnosis of cutis laxa can be missed or delayed because symptoms can mimic symptoms of other diseases. For more information on misdiagnosis, refer to misdiagnosis of cutis laxa.
Treatment plans for cutis laxa vary depending on the severity of the case, the presence of complications and other factors. However, there is no specific treatment that can cure or prevent progression of the disorder. Treatment includes regular monitoring for complications and treatments to help minimize symptoms. This may include medications and surgery. For more information on treatment, refer to treatment of cutis laxa. ...more »
Cutis laxa: A connective tissue disorder which may be acquired or present at birth. It is characterized by slack or loose skin which may be thicker and darker than normal.
More detailed information about the symptoms,
causes, and treatments of Cutis laxa is available below.
Cutis laxa: Symptoms
The types and severity of symptoms and complications of cutis laxa vary between individuals. Not all people with cutis laxa will have all signs, symptoms or complications. Symptoms and complications depend on a number of factors, including the specific type of cutis laxa.
In some people symptoms of cutis laxa are relatively mild, only affect the skin, and do not result in serious ...more symptoms »
Cutis laxa: Treatments
Treatments and prognosis of cutis laxa vary depending on the specific type of the disorder and the individual case. Treatment includes a multifaceted plan that is tailored to the specific case, the presence of coexisting diseases and complications, the age and medical history of the patient, and other factors.
There is no specific treatment that can cure or prevent ...more treatments »
Cutis laxa: Misdiagnosis
A diagnosis of cutis laxa may be delayed or missed because it is rare. Symptoms of cutis laxa can be similar to a variety of other diseases and disorders, such as wrinkly skin syndrome, Costello syndrome, and Ethos-Danlos syndrome. ...more misdiagnosis »
Symptoms of Cutis laxa
See full list of 7
symptoms of Cutis laxa
Wrongly Diagnosed with Cutis laxa?
Cutis laxa: Complications
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Causes of Cutis laxa
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Disease Topics Related To Cutis laxa
Research the causes of these diseases that are similar to, or related to, Cutis laxa:
Less Common Symptoms of Cutis laxa
Read more about symptoms of Cutis laxa
Misdiagnosis and Cutis laxa
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The main...read more »
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Cutis laxa: Research Doctors & Specialists
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Evidence Based Medicine Research for Cutis laxa
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Cutis laxa: Animations
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Research about Cutis laxa
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Clinical Trials for Cutis laxa
The US based website ClinicalTrials.gov lists information on both federally
and privately supported clinical trials using human volunteers.
Some of the clinical trials listed on ClinicalTrials.gov for Cutis laxa include:
Read more about Clinical Trials for Cutis laxa
Statistics for Cutis laxa
Cutis laxa: Broader Related Topics
Types of Cutis laxa
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Definitions of Cutis laxa:
A group of connective tissue diseases in which skin hangs in loose pendulous folds. It is believed to be associated with decreased elastic tissue formation as well as an abnormality in elastin formation. Cutis laxa is usually a genetic disease, but acquired cases have been reported. (From Dorland, 27th ed)
- (Source - Diseases Database)
Cutis laxa is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Cutis laxa, or a subtype of Cutis laxa,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Cutis laxa as a "rare disease".
Source - Orphanet
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