cutis laxa

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Cutis Laxa



Cutis laxa (Latin for loose or lax skin) is a connective tissue disorder in which the skin lacks elasticity and hangs in loose folds.


Cutis laxa is extremely rare; less than a few hundred cases worldwide have been described.
The several forms of cutis laxa are divided into primary cutis laxa, which is present from birth and is hereditary, secondary cutis laxa, which arises later in life and may be hereditary, and acquired cutis laxa, which arises later in life and is not hereditary. Loose skin, the primary and most obvious symptom of these diseases, is caused by underlying defects in connective tissue structure, which also cause more serious internal problems in vocal cords, bones, cartilage, blood vessels, bladder, kidney, digestive system, and lungs. The loose skin is particularly obvious on the face, and children with the disorder look sad or mournful.
There are four genetic forms of the disease: sex-linked, autosomal dominant, and two types of autosomal recessive inheritance. The recessive forms are the most common and are usually more severe than the other forms.

Causes and symptoms

Sex-linked cutis laxa is caused by a defective gene on the X chromosome. In addition to loose skin, its symptoms are mild mental retardation, loose joints, bone abnormalities (like hooked nose, pigeon breast, and funnel breast), frequent loose stools, urinary tract blockages, and deficiencies in lysyl oxidase, an enzyme required for the formation of properly functioning connective tissue. (But the defective gene does not code for lysyl oxidase.)
Autosomal dominant cutis laxa is caused by a defective gene carried on an autosomal (not sex-linked) chromosome. Its symptoms are loose, hanging skin, missing elastic fibers, premature aging, and pulmonary emphysema. Only a few families are known with cutis laxa inherited as a dominant trait.
Autosomal recessive cutis laxa type 1 is caused by a defective gene on chromosome 5. Symptoms include emphysema; diverticula in the esophagus, duodenum, and bladder; lax and dislocated joints; tortuous arteries; hernias; lysyl oxidase deficiencies; and retarded growth.
Autosomal recessive cutis laxa type 2 is also inherited as a recessive trait. In addition to the loose skin, this form of the disease is characterized by bone abnormalities, the delayed joining of the cranial (skull) bones, hip dislocation, curvature of the spine, flat feet, and excessive tooth decay.
Acquired cutis laxa tends to follow (and may be caused by) severe illness characterized by fever, inflammation, and a severe skin rash (erythema multiforme); an injury to the nerves that control blood vessel dilation and contraction; or an autoimmune condition.


The signs of cutis laxa are very obvious, and it is usually easy to diagnose by examining the skin. The determination of which form of cutis laxa is present is aided by information about the associated symptoms and by family histories.


There is no effective cure for any of these disorders. Complications are treated by appropriate specialists, for example, cardiologists, gastroenterologists, rheumatologists, and dermatologists. Plastic surgery can be helpful for cosmetic purposes, but the skin may become loose again.


The prognosis for cutis laxa varies with the form of the disorder. The effects may be relatively mild with individuals living a fairly normal, full life, or the disease may be fatal.

Key terms

Autosomal — Refers to the 22 pairs (in humans) of chromosomes not involved with sex determination.
Connective tissue — Tissue that supports and binds other tissue; much of it occurs outside of cells (extra-cellular) and consists of fibrous webs of the polymers, elastin and collagen. Cutis laxa is associated with defects in these fibers.
Diverticula — Pouches in the walls of organs.
Dominant trait — A genetic trait where one copy of the gene is sufficient to yield an outward display of the trait; dominant genes mask the presence of recessive genes; dominant traits can be inherited from only one parent.
Duodenum — The uppermost part of the small intestine, about 10 in (25 cm) long.
Esophagus — The tube connecting the throat to the stomach, about 10 in (25 cm) long.
Funnel breast (also known as pectus excavatum) — A condition where there is a hollow depression in the lower part of the chest.
Gene — A portion of a DNA molecule that either codes for a protein or RNA molecule or has a regulatory function.
Lysyl oxidase — An enzyme required for the crosslinking of elastin and collagen molecules to form properly functioning connective tissue; present in relatively low levels in at least some forms of cutis laxa.
Pigeon breast (also known as pectus carinatum) — A chest shape with a central projection resembling the keel of a boat.
Recessive trait — An inherited trait that is outwardly obvious only when two copies of the gene for that trait are present; an individual displaying a recessive trait must have inherited one copy of the defective gene from each parent.
Sex-linked — Refers to genes or traits carried on one of the sex chromosomes, usually the X.
Tortuous arteries — Arteries with many bends and twists.
X chromosome — One of the two types of sex chromosomes; females have two X chromosomes, while males have one X chromosome and one Y chromosome.


The inherited forms of cutis laxa are genetically determined and are not currently preventable. Genetic counseling can be helpful for anyone with a family history of cutis laxa. The cause of acquired cutis laxa is not known, so no preventive measures can be taken.



British Coalition of Heritable Disorders of Connective Tissue. Rochester House, 5 Aldershot Road, Fleet, Hampshire GU13 9NG, United Kingdom. (012) 52-810472.


OMIM Homepage, Online Mendelian Inheritance in Man.
Gale Encyclopedia of Medicine. Copyright 2008 The Gale Group, Inc. All rights reserved.


cutis anseri´na goose flesh.
cutis hyperelas´tica Ehlers-Danlos syndrome.
cutis lax´a a group of connective tissue disorders in which the skin hangs in loose pendulous folds, believed to be associated with decreased elastic tissue formation as well as an abnormality in elastin formation, and usually occurring as a hereditary disorder and occasionally in an acquired form.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.


A congenital or acquired condition characterized by deficient elastic fibers of the skin, which may hang in folds; vascular anomalies may be present; inheritance is either autosomal dominant or recessive, the latter sometimes in association with pulmonary emphysema and diverticula of the alimentary tract or bladder. The dominant form is caused by mutation in the elastin gene (ELN) on 7q. There is also an X-linked form that is due to mutation in the Menkes gene (MNK), encoding copper-transporting ATPase on Xq.
[dermato- + G. chalasis, a loosening]
Farlex Partner Medical Dictionary © Farlex 2012


An acquired condition characterized by undue looseness or pendulousness of the eyelid skin due to degeneration of elastic fibers.
Synonym(s): cutis laxa [TA] , pachydermatocele, blepharochalasis.
[dermato- + G. chalasis, a loosening]
Medical Dictionary for the Health Professions and Nursing © Farlex 2012