Cutis laxa, dominant type

Cutis Laxa, Dominant Type

Cutis laxa, dominant type, is a rare connective tissue disorder characterized by loose, sagging skin that lacks elasticity. This condition is part of a group of disorders known as cutis laxa syndromes, which affect the skin and other connective tissues throughout the body. The dominant type of cutis laxa is inherited in an autosomal dominant pattern, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder.

Clinical Features

Individuals with cutis laxa, dominant type, typically present with loose, wrinkled skin that may be most noticeable on the face, neck, and extremities. The skin changes are often apparent at birth or in early childhood and tend to worsen with age. In addition to skin abnormalities, affected individuals may experience:

• Cardiovascular issues: Problems such as aortic aneurysms, arterial tortuosity, and other vascular anomalies.
• Pulmonary complications: Including emphysema and other respiratory issues due to weakened connective tissue in the lungs.
• Gastrointestinal problems: Such as hernias and diverticula.
• Skeletal abnormalities: Including joint laxity and, in some cases, skeletal deformities.

Genetic Basis

The dominant type of cutis laxa is associated with mutations in several genes, including ELN, which encodes the protein elastin. Elastin is a key component of elastic fibers in connective tissue, and mutations in the ELN gene can disrupt the normal structure and function of these fibers, leading to the symptoms of cutis laxa.

Diagnosis

Diagnosis of cutis laxa, dominant type, is based on clinical evaluation, family history, and genetic testing. Skin biopsy may reveal abnormalities in elastic fibers, and imaging studies can assess the extent of internal organ involvement.

Management

There is no cure for cutis laxa, dominant type, but management focuses on monitoring and treating symptoms. This may include:

• Regular cardiovascular evaluations: To monitor for aneurysms and other vascular issues.
• Pulmonary function tests: To assess and manage respiratory complications.
• Surgical interventions: For hernias or other structural problems.
• Genetic counseling: For affected individuals and their families.

Prognosis

The prognosis for individuals with cutis laxa, dominant type, varies depending on the severity of symptoms and the presence of complications. Early diagnosis and management of cardiovascular and pulmonary issues are crucial for improving outcomes.

Also see

• Cutis laxa
• Connective tissue disorder
• Elastin
• Autosomal dominant disorder

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