History
Patients report progressive laxity and sagging of the skin as they notice the development of loose, wrinkled skin. Note the image below.
A history of an inflammatory process involving the skin preceding the development of loose folds of skin may be present. Patients may have a family history of a skin disorder. A history of prior penicillin or penicillamine use may be present.
Urticarial lesions preceding acquired cutis laxa (elastolysis) have been reported in association with alpha-1 antitrypsin deficiency. Acquired cutis laxa can also occur in association with complement deficiency (C3 and C4), systemic lupus erythematosus, sarcoidosis, [26] multiple myeloma, [27, 28, 29] , systemic amyloidosis, [30] and immunoglobulin G (IgG)–4 heavy-chain deposition disease of the kidneys. [31]
Physical Examination
Physical findings may include the following:
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Skin (primary lesion): The skin is loose, inelastic, and hangs in folds. Loose, pendulous skin gives the appearance of aging; therefore, patients appear much older than their actual age. The skin demonstrates decreased elastic recoil on stretching. Skin fragility, easy bruisability, and poor wound healing are not associated with cutis laxa (elastolysis). Down-slanting palpebral fissures and a long philtrum are indicative of autosomal recessive cutis laxa type 2A. [32]
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Skin (distribution): Any portion of the body may be affected; however, the loose appearance is most prominent around the eyes, the face, the neck, the shoulders, and the thighs. In many cases of acquired cutis laxa, involvement of the face and the neck occurs first and progresses in a cephalocaudal fashion. Patients have a prematurely aged appearance.
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Gastrointestinal tract: Diverticula of the small and large bowels may be present; rectal prolapse may occur.
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Pulmonary: Bronchiectasis, emphysema, and cor pulmonale may be present. In acquired cutis laxa (elastolysis), pulmonary involvement typically manifests as emphysema due to the loss of the elastin support network and is the most common cause of death in these patients.
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Cardiovascular: Cardiomegaly, congestive heart failure, murmurs, cor pulmonale, and aortic aneurysms may occur. Severe aortic disease may be present as a result of aortic vessel medial degeneration and extracellular elastin deposits lacking microfibrillar elements. [33]
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Skeletal: Osteoporosis and other skeletal abnormalities, such as growth retardation, delayed fontanelle closure, and ligamentous laxity, may be present. Frontal bossing and thin triangular faces have been reported in autosomal recessive cutis laxa type 2A patients. Flat feet is a common finding as well, along with hypotonia and congenital hip dislocation. [32]
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Other: Umbilical, inguinal, and hiatal hernias may occur.
Causes
The underlying cause of cutis laxa (elastolysis) is unknown and probably variable. Most hypotheses suggest possible mechanisms for the reduction of elastic fibers in cutis laxa. Those most often reported in literature are as follows:
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Abnormal copper metabolism/copper deficiency
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Decreased serum elastase inhibitor level
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Low lysyl oxidase activity
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Increased elastase activity
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Postinflammatory elastolysis
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Immune-mediated mechanism
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Decreased elastin gene expression
Complications
The most serious complication, which may be life threatening, is cor pulmonale resulting from severe progressive pulmonary emphysema.
In the autosomal dominant form, few, if any, systemic complications occur.
Severe internal complications of the autosomal recessive form include genitourinary and gastrointestinal diverticula, diaphragmatic hernia, and emphysema leading to cor pulmonale and death in the first few years of life.
In acquired cutis laxa (elastolysis), visceral involvement is common and has occurred in all reported patients with onset of acquired disease after the age of 20 years. This may include breakdown of elastic fibers and loss of tissue support involving the lungs, the gastrointestinal tract, the heart, and the urogenital system.
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Prominent skin laxity and wrinkling on the back.
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Marked diminution of elastic fibers in the lower dermis (Verhoeff-van Gieson stain). Courtesy of Dr F. Abreo.
