Acrogeria
Acrogeria
Acrogeria (pronounced: ak-roh-jer-ee-uh) is a rare genetic disorder that primarily affects the skin. The term is derived from the Greek words 'akros' meaning 'extreme' or 'tip' and 'geras' meaning 'old age'.
Definition
Acrogeria, also known as Gottron syndrome, is characterized by an early onset of skin aging, particularly on the hands and face. This condition is often associated with a thin, delicate skin with visible veins and premature aging of the hands and feet.
Symptoms
The primary symptom of Acrogeria is premature aging of the skin, particularly on the hands and face. Other symptoms may include:
- Thin, delicate skin with visible veins
- Premature aging of the hands and feet
- Limited joint mobility
- High-pitched voice
- Small jaw (micrognathia)
- Delayed tooth eruption
Causes
Acrogeria is a genetic disorder, which means it is caused by abnormalities in genes. It is thought to be associated with mutations in the COL3A1 gene, which is responsible for the production of a protein involved in the structure and strength of skin, blood vessels, and internal organs.
Diagnosis
Diagnosis of Acrogeria is based on the clinical symptoms and physical examination. Genetic testing may be used to confirm the diagnosis and identify the specific mutation in the COL3A1 gene.
Treatment
There is currently no cure for Acrogeria. Treatment is focused on managing the symptoms and may include skin care to prevent dryness and cracking, physical therapy to improve joint mobility, and dental care to manage delayed tooth eruption.
See also
References
External links
External links
- Medical encyclopedia article on Acrogeria
- Wikipedia's article - Acrogeria
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