Cutis laxa, recessive type 2

Cutis Laxa, Recessive Type 2

Cutis laxa, recessive type 2, 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 syndromes, which are primarily distinguished by the laxity of the skin. The recessive type 2 form is specifically associated with mutations in the ATP6V0A2 gene.

Clinical Features

Individuals with cutis laxa, recessive type 2, typically present with loose, redundant skin that lacks elasticity. This is most noticeable on the face, resulting in a prematurely aged appearance. In addition to the dermatological manifestations, patients may exhibit:

• Skeletal abnormalities: These can include joint laxity, hip dislocation, and other orthopedic issues.
• Cardiovascular issues: Some patients may experience arterial tortuosity, aneurysms, or other vascular complications.
• Pulmonary complications: Emphysema or other respiratory issues may be present.
• Neurological involvement: Developmental delay and intellectual disability can occur in some cases.

Genetic Basis

Cutis laxa, recessive type 2, is caused by mutations in the ATP6V0A2 gene, which encodes a component of the vacuolar ATPase (V-ATPase) complex. This complex is crucial for acidifying intracellular compartments, a process essential for various cellular functions, including protein processing and trafficking.

The inheritance pattern of this disorder is autosomal recessive, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent. Carriers, who have only one copy of the mutation, typically do not show symptoms.

Diagnosis

Diagnosis of cutis laxa, recessive type 2, is based on clinical evaluation, family history, and genetic testing. Skin biopsy may reveal characteristic histological changes, such as fragmented elastic fibers. Genetic testing can confirm the diagnosis by identifying mutations in the ATP6V0A2 gene.

Management

There is currently no cure for cutis laxa, recessive type 2. Management focuses on symptomatic treatment and supportive care. This may include:

• Dermatological care: Moisturizers and other skin treatments to manage skin laxity.
• Orthopedic interventions: Surgery or physical therapy for joint issues.
• Cardiovascular monitoring: Regular check-ups to monitor and manage vascular complications.
• Pulmonary support: Respiratory therapy for those with lung involvement.

Prognosis

The prognosis for individuals with cutis laxa, recessive type 2, varies depending on the severity of systemic involvement. While skin laxity itself is not life-threatening, associated complications, particularly cardiovascular and pulmonary issues, can impact life expectancy and quality of life.

Also see

• Cutis laxa
• Connective tissue disorder
• ATP6V0A2
• Autosomal recessive disorder