Acrogeria

A rare genetic disorder characterized by premature aging of the skin

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Acrogeria is a rare genetic disorder that primarily affects the skin, leading to premature aging. It is characterized by thin, fragile skin, particularly on the hands and feet, and is often associated with other connective tissue abnormalities.

Signs and symptoms

Individuals with acrogeria typically present with skin that appears thin and translucent, especially on the extremities. The skin may also show signs of atrophy, with a loss of subcutaneous fat, leading to a more pronounced appearance of veins and underlying structures. Other common features include:

• Telangiectasia
• Bruising easily
• Joint hypermobility
• Osteoporosis

Genetics

Acrogeria is often inherited in an autosomal dominant pattern, although cases of autosomal recessive inheritance have also been reported. The condition is associated with mutations in genes that affect collagen synthesis and structure, which are crucial for maintaining the integrity and elasticity of the skin.

Pathophysiology

The primary defect in acrogeria involves abnormalities in collagen production and structure. Collagen is a key component of the extracellular matrix, providing strength and support to the skin and other connective tissues. In acrogeria, the altered collagen leads to the characteristic skin changes and other connective tissue manifestations.

Diagnosis

Diagnosis of acrogeria is primarily clinical, based on the characteristic skin findings and family history. Genetic testing can confirm the diagnosis by identifying mutations in the relevant genes. Skin biopsy may show changes in collagen structure, but this is not routinely required for diagnosis.

Management

There is no cure for acrogeria, and management focuses on symptomatic treatment and prevention of complications. This may include:

• Use of sunscreen to protect the skin
• Avoidance of trauma to prevent bruising
• Monitoring for osteoporosis and other complications

Prognosis

The prognosis for individuals with acrogeria varies depending on the severity of the condition and the presence of associated complications. While the skin changes are permanent, they do not typically affect life expectancy.

Related pages

• Progeria
• Ehlers-Danlos syndrome
• Cutis laxa

Gallery

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  Transmission electron micrograph of collagen fibers, which are affected in acrogeria.