Cutis Laxa Health Article

Definition

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

Description

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 either 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: sexlinked, 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.

Diagnosis

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.

Treatment

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.

Prognosis

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.

Prevention

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.

BOOKS

Pope, F. Michael. "Pseudoxanthoma Elasticum, Cutis Laxa, and Other Disorders of Elastic Tissue." In Emery and Rimoin's Principles and Practice of Medical Genetics. 3rd ed. Ed. David L. Rimoin, et al. New York: Churchill Livingstone, 1998.

ORGANIZATIONS

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

National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse, National Institutes of Health. 1 AMS Circle, Bethesda, Maryland 20892-3675. (877) 226-4267. <http://www.nih.gov/niams/healthinfo/info.htm>.

OTHER

OMIM Homepage, Online Mendelian Inheritance in Man. <http://www.ncbi.nlm.nih.gov/Omim>.

Lorraine Lica, PhD