Cutis laxa


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.


The list of signs and symptoms mentioned in various sources for Cutis laxa includes the 7 symptoms listed below: * Transient swelling * Inelastic skin * Skin folds * Loose skin * Sad expression due to folds in facial skin * Bleeding under skin in acquired forms * Ruptured blood vessels in acquired forms


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 strength and flexibility to connective tissue throughout the body. Elastic fibers allow the skin to stretch, the lungs to expand and contract, and arteries to handle blood flowing through them at high pressure.

Mutations in the genes described above account for only a small percentage of all cases of cutis laxa. Researchers suspect that mutations in other genes, which have not been identified, can also be responsible for the condition.

Rare cases of cutis laxa are acquired, which means they are probably not caused by inherited gene mutations. Acquired cutis laxa appears later in life and is related to the destruction of normal elastic fibers. The causes of acquired cutis laxa are unclear, although it may occur as a side effect of treatment with medications that remove copper from the body (copper chelating drugs).


The phrase "signs of Cutis laxa" should, strictly speaking, refer only to those signs and symptoms of Cutis laxa that are not readily apparent to the patient. The word "symptoms of Cutis laxa" is the more general meaning; see symptoms of Cutis laxa. The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Cutis laxa. This medical information about signs and symptoms for Cutis laxa has been gathered from various sources, may not be fully accurate, and may not be the full list of Cutis laxa signs or Cutis laxa symptoms. Furthermore, signs and symptoms of Cutis laxa may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Cutis laxa symptoms.