Cutis laxa

Cutis laxa is a disorder of connective tissue, which is the tissue that forms the body's supportive framework. Connective tissue provides structure and strength to the muscles, joints, organs, and skin. The term "cutis laxa" is Latin for loose or ...1

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Symptoms of Cutis laxa

Some disorders affect the skin. For example, Ehlers-Danlos syndrome results in stretchy or loose skin, while in another connective tissue disorder, cutis laxa, deficient elastic fibers cause the skin to hang in folds. ...Source: NIAMS (NIH)2 ...

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Complications of Cutis laxa

The disorder can also result in serious problems with vocal cords, bones, cartilage, blood vessels, and vital internal organs. ...Source: NIAMS (NIH)3 ...

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Causes of Cutis laxa

So far, the investigators have shown how elastin gene mutations cause two specific diseases: a skin disease (cutis laxa) and a blood vessel disease (supravalvular aortic stenosis). ...Source: NIAMS (NIH)4 ...

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Causes List for Cutis laxa

Some possible causes of Cutis laxa or similar disorders may include:5

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Types of Cutis laxa

Some of the types of this condition may include:6 Types of Cutis laxa:

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Genetics of Cutis laxa

Genetic Changes: Cutis laxa can be caused by mutations in the ATP6V0A2 , ATP7A , EFEMP2 , ELN , or FBLN5 gene. Most of these genes are involved in the formation and function of elastic fibers, which are slender bundles of proteins that provide ...7

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Research for Cutis laxa

The NIAMS is examining gene defects that lead to abnormal elastin, the connective tissue protein that allows arteries, muscles, and other organs to respond in certain ways to movement. So far, the investigators have shown how elastin gene mutations cause ...8

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)9 ...

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ cutis-laxa
  2. Source: NIAMS (NIH): niams.nih.gov/ Health_Info/ Connective_Tissue/ default.asp
  3. ibid.
  4. ibid.
  5. Source: Algorithmically Generated List
  6. Source: Human Phenotype Ontology
  7. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ cutis-laxa
  8. Source: NIAMS (NIH): niams.nih.gov/ Health_Info/ Connective_Tissue/ default.asp
  9. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ cutis-laxa

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