Cutis laxa, recessive

Cutis Laxa, Recessive

Cutis laxa, recessive is a rare genetic disorder characterized by loose, sagging skin and a variety of systemic manifestations. This condition is part of a group of connective tissue disorders known as cutis laxa. The recessive form of cutis laxa is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder.

Clinical Features

Individuals with recessive cutis laxa typically present with loose, redundant skin that lacks elasticity. This can lead to a prematurely aged appearance. The skin changes are often generalized but can be more pronounced in certain areas such as the face, neck, and extremities.

In addition to the dermatological manifestations, recessive cutis laxa can involve multiple organ systems, leading to:

• Pulmonary complications: Emphysema and other respiratory issues due to the involvement of elastic fibers in the lungs.
• Cardiovascular abnormalities: Aortic aneurysms and other vascular problems.
• Gastrointestinal issues: Hernias and diverticula.
• Skeletal abnormalities: Joint laxity and other musculoskeletal problems.

Genetic Basis

Recessive cutis laxa is caused by mutations in several different genes, including:

• FBLN5: Mutations in this gene can lead to a form of cutis laxa with severe pulmonary and cardiovascular involvement.
• ATP6V0A2: Mutations here are associated with cutis laxa type II, which includes neurological involvement.
• PYCR1: Mutations in this gene can cause a form of cutis laxa with progeroid features.

The specific gene mutation can influence the severity and range of symptoms experienced by the individual.

Diagnosis

Diagnosis of recessive cutis laxa is based on clinical examination, family history, and genetic testing. Skin biopsy may show abnormalities in elastic fibers, but genetic testing is crucial for confirming the diagnosis and identifying the specific gene mutation involved.

Management

There is no cure for recessive cutis laxa, and treatment is primarily supportive and symptomatic. Management strategies may include:

• Dermatological care: To manage skin symptoms and prevent complications.
• Pulmonary support: Including monitoring and treatment for emphysema.
• Cardiovascular monitoring: Regular check-ups to detect and manage vascular complications.
• Surgical interventions: For hernias or other structural issues.

Genetic counseling is recommended for affected families to understand the inheritance pattern and risks for future pregnancies.

Prognosis

The prognosis for individuals with recessive cutis laxa varies depending on the severity of systemic involvement. Early diagnosis and management of complications can improve quality of life and outcomes.

Also see

• Cutis laxa
• Connective tissue disorder
• Elastic fiber
• Genetic disorder

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