Cutis laxa
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| Cutis laxa Classification and external resources |
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| ICD-10 | L57.4, Q82.8 |
|---|---|
| ICD-9 | 701.8, 756.83 |
| OMIM | 123700 219100 219200 304150 |
| DiseasesDB | 29117 |
| eMedicine | derm/03 |
| MeSH | D003483 |
Cutis laxa (also called elastolysis) is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds. [1]
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[edit] Causes
In most cases, cutis laxa is inherited. Autosomal dominant, autosomal recessive and X-linked recessive forms have been described, but acquired forms also occur.
In patients suffering from cutis laxa, mutations in the elastic fibers comprising the dermis have been identified.
There is some evidence tying it to ELN,[2] ATP6V0A2,[3] ATP7A,[4] FBLN5 and FBLN4.[5]
[edit] Presentation
It is characterized by skin that is loose, hanging, wrinkled, and lacking in elasticity. The loose skin is often most noticeable on the face, resulting in a prematurely aged appearance. The affected areas of skin may be thickened and dark. In addition, the joints are loose (hypermobility) because of lax ligaments and tendons. When cutis laxa is severe, it can also affect the internal organs. The lungs, heart, intestines, or arteries may be affected with a variety of severe impairments. In some cases, hernias and outpouching of the bladder can be observed.
[edit] References
- ^ c_68/12273215 at Dorland's Medical Dictionary
- ^ OMIM - CUTIS LAXA, AUTOSOMAL DOMINANT. Retrieved on 2008-03-24.
- ^ OMIM - CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE II. Retrieved on 2008-03-24.
- ^ OMIM - CUTIS LAXA, X-LINKED. Retrieved on 2008-03-24.
- ^ OMIM - CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I. Retrieved on 2008-03-24.
[edit] See also
[edit] External links
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