Cutis laxa may be inherited or acquired.
There are 4 hereditary forms:
The autosomal recessive 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 .
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 acquired cases is unknown.
Pathophysiology of Cutis Laxa
Cutis laxa is caused by abnormal elastin metabolism that results in fragmented elastin and thus 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.
In the acquired forms, presentation differs according to age of onset. There are two types. Type 1 typically manifests in adulthood and often also involves internal organs. Type 2 (postinflammatory elastolysis and cutis laxa [Marshall syndrome]) manifests in early childhood and only rarely involves internal organs. It is often preceded by an inflammatory phase.
Diagnosis of Cutis Laxa
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.
Typical cutis laxa can be distinguished from Ehlers-Danlos syndromes Diagnosis Ehlers-Danlos syndromes are hereditary collagen disorders characterized by joint hypermobility, dermal hyperelasticity, and widespread tissue fragility. Diagnosis is clinical. Treatment is supportive... read more because dermal fragility and articular hypermobility are absent. Other disorders sometimes cause localized areas of loose skin. In Turner syndrome Symptoms and Signs In Turner syndrome, girls are born with one of their two X chromosomes partly or completely missing. Diagnosis is based on clinical findings and is confirmed by cytogenetic analysis. Treatment... read more , lax skinfolds at the base of an affected girl’s neck tighten and resemble webbing as she ages. In neurofibromatosis Symptoms and Signs Neurofibromatosis refers to several related disorders that have overlapping clinical manifestations but that are now understood to have distinct genetic causes. It causes various types of benign... read more , unilateral pendular plexiform neuromas occasionally develop, but their configuration and texture distinguish them from cutis laxa.
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.
Drugs Mentioned In This Article
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|Cuprimine, Depen, D-PENAMINE|
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