Acrogeria

A rare genetic disorder affecting connective tissue

Acrogeria

Electron micrograph of collagen fibers, which are affected in acrogeria.

Acrogeria is a rare genetic disorder characterized by premature aging of the skin, particularly affecting the hands and feet. It is a form of cutaneous atrophy that results in thin, fragile skin with a distinctive appearance. The condition is often apparent from birth or early childhood and is associated with abnormalities in collagen synthesis and structure.

Clinical Features

Individuals with acrogeria typically present with:

• Thin, translucent skin: The skin over the hands and feet appears thin and translucent, often with visible veins.
• Prominent veins: Due to the thinning of the skin, veins become more visible.
• Loss of subcutaneous fat: There is a noticeable loss of the fat layer beneath the skin, contributing to the aged appearance.
• Wrinkling and atrophy: The skin may develop fine wrinkles and show signs of atrophy, particularly in areas exposed to mechanical stress.
• Delayed wound healing: The skin's ability to heal after injury is often impaired.

Pathophysiology

Acrogeria is primarily associated with defects in collagen synthesis. Collagen is a major structural protein in the skin and other connective tissues, providing strength and elasticity. In acrogeria, mutations affecting collagen production or structure lead to the characteristic skin changes. The specific genetic mutations involved can vary, and the condition may be inherited in an autosomal dominant or autosomal recessive manner.

Diagnosis

Diagnosis of acrogeria is based on clinical examination and the characteristic appearance of the skin. Genetic testing can confirm the diagnosis by identifying mutations in genes associated with collagen production. A skin biopsy may also be performed to examine the structure of collagen fibers under a microscope.

Management

There is no cure for acrogeria, and management focuses on symptomatic treatment and supportive care. This may include:

• Skin care: Use of moisturizers and emollients to maintain skin hydration and integrity.
• Protection from injury: Avoiding trauma to the skin and using protective clothing to prevent damage.
• Monitoring for complications: Regular follow-up to monitor for potential complications such as skin ulcers or infections.

Related Pages

• Cutis laxa
• Ehlers-Danlos syndrome
• Progeria
• Collagen