Cutis laxa, recessive type 1

Cutis laxa, recessive type 1
Synonyms	ARCL1
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Cutis laxa, recessive type 1 (ARCL1) is a rare genetic disorder characterized by loose, sagging skin and a variety of systemic manifestations. It is one of the several forms of cutis laxa, a group of connective tissue disorders that affect the skin and other organs.

Etiology

Cutis laxa, recessive type 1 is caused by mutations in the FBLN5 gene, which encodes the protein fibulin-5. Fibulin-5 is crucial for the formation and maintenance of elastic fibers in connective tissue. Mutations in this gene lead to defective elastic fiber formation, resulting in the characteristic loose skin and other systemic symptoms.

Clinical Features

The primary feature of ARCL1 is loose, redundant skin that hangs in folds, particularly noticeable on the face, neck, and extremities. The skin may appear prematurely aged. In addition to cutaneous manifestations, patients may experience:

• Pulmonary emphysema
• Gastrointestinal diverticula
• Hernias
• Cardiovascular abnormalities
• Joint laxity

Diagnosis

Diagnosis of ARCL1 is based on clinical examination, family history, and genetic testing. Skin biopsy may show abnormalities in elastic fibers. Genetic testing can confirm mutations in the FBLN5 gene.

Management

There is no cure for cutis laxa, recessive type 1. Management focuses on symptomatic treatment and supportive care. This may include:

• Regular monitoring and management of pulmonary and cardiovascular complications
• Surgical repair of hernias and diverticula
• Dermatological care for skin issues

Prognosis

The prognosis for individuals with ARCL1 varies depending on the severity of systemic involvement. Pulmonary and cardiovascular complications can significantly impact life expectancy and quality of life.

Genetic Counseling

As an autosomal recessive disorder, ARCL1 requires both parents to be carriers of the mutated gene for a child to be affected. Genetic counseling is recommended for affected families to understand the risks and implications of the disorder.

Research Directions

Ongoing research aims to better understand the pathophysiology of ARCL1 and develop potential therapies. Gene therapy and other molecular approaches are being explored as future treatment options.

Also see

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

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