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Cutis Laxa

By

Frank Pessler

, MD, PhD, Helmholtz Centre for Infection Research

Last full review/revision Oct 2020| Content last modified Oct 2020
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Cutis laxa is characterized by lax skin hanging in loose folds. Diagnosis is clinical. There is no specific treatment, but plastic surgery is sometimes done.

Cutis laxa may be inherited or acquired. There are 4 hereditary forms:

The autosomal recessive Autosomal Recessive Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. If expression of a trait requires only one copy of a gene (one allele)... read more forms tend to be more common, and one of them causes potentially lethal cardiovascular, respiratory, and gastrointestinal complications. The other inherited forms may be relatively benign.

Rarely, infants can acquire cutis laxa after a febrile illness or after exposure to a specific drug (eg, hypersensitivity reaction to penicillin, fetal exposure to penicillamine). In children or adolescents, cutis laxa usually develops after a severe illness involving fever, polyserositis, or erythema multiforme Erythema Multiforme Erythema multiforme is an inflammatory reaction, characterized by target or iris skin lesions. Oral mucosa may be involved. Diagnosis is clinical. Lesions spontaneously resolve but frequently... read more Erythema Multiforme . In adults, it may develop insidiously or in association with a variety of disorders, particularly plasma cell dyscrasias Overview of Plasma Cell Disorders Plasma cell disorders are a diverse group of disorders of unknown etiology characterized by Disproportionate proliferation of a single clone of B cells Presence of a structurally and electrophoretically... read more . The underlying defect in these acquired cases is unknown, but fragmented elastin is present in all forms.

Pathophysiology of Cutis Laxa

Cutis laxa is caused by abnormal elastin metabolism that results in reduced elasticity of the skin. The precise cause is unknown except in congenital cases where an underlying gene defect (eg, in the ELN, FBLN4, FBLN5, ATP6V0A2, or ATP7A genes) can be identified. Several factors, such as copper deficiency Copper Deficiency Copper is a component of many body proteins; almost all of the body’s copper is bound to copper proteins. Copper deficiency may be acquired or inherited. (See also Overview of Mineral Deficiency... read more , elastin quantity and morphology, and elastases and elastase inhibitors, are implicated in the abnormal elastin degradation.

Symptoms and Signs of Cutis Laxa

In hereditary forms, dermal laxity may be present at birth or develop later; it occurs wherever the skin is normally loose and hanging in folds, most obviously on the face. Affected children have mournful or Churchillian facies and a hooked nose. The benign autosomal recessive form also causes intellectual disability and joint laxity. Gastrointestinal tract hernias and diverticula are common. If the disorder is severe, progressive pulmonary emphysema may precipitate cor pulmonale. Bronchiectasis, heart failure, and aortic aneurysms can also occur.

Diagnosis of Cutis Laxa

  • Clinical evaluation

  • Sometimes skin biopsy, testing for complications

Diagnosis of cutis laxa is clinical. There are no specific laboratory findings; however, a skin biopsy may reveal abnormalities in elastic fibers. Certain tests (eg, echocardiography, chest x-ray) may be done to check for associated conditions (eg, emphysema, cardiomegaly, heart failure) in patients with cardiopulmonary symptoms. Genetic testing is indicated for patients with early-onset cutis laxa or a suggestive family history because test results may predict the risk of transmission to offspring and of extracutaneous organ involvement.

Treatment of Cutis Laxa

  • Sometimes plastic surgery

There is no specific cutis laxa treatment. Physical therapy may sometimes help increase skin tone.

Plastic surgery considerably improves appearance in patients with hereditary cutis laxa but is less successful in those with acquired disease. Healing is usually uncomplicated, but dermal laxity may recur. Extracutaneous complications are treated appropriately.

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