Acrogeria
(Redirected from Gottron syndrome)
Acrogeria is a rare genetic disorder that is primarily characterized by a prematurely aged appearance, particularly affecting the skin of the hands and feet. This condition is often associated with the Hutchinson-Gilford Progeria Syndrome (HGPS), a more severe and widely recognized form of premature aging.
Symptoms[edit | edit source]
The primary symptom of Acrogeria is the premature aging of the skin, particularly on the hands and feet. This can include thin, tight, and shiny skin with visible veins, as well as a lack of subcutaneous fat. Other symptoms can include joint stiffness, limited mobility, and in some cases, cardiovascular complications.
Causes[edit | edit source]
Acrogeria is caused by mutations in the LMNA gene. This gene provides instructions for making a protein that is a key component of the nuclear envelope, which surrounds the nucleus in cells. Mutations in the LMNA gene disrupt the structure and function of the nuclear envelope, leading to premature aging of cells.
Diagnosis[edit | edit source]
Diagnosis of Acrogeria is typically based on the physical symptoms, particularly the prematurely aged appearance of the skin. Genetic testing can confirm a diagnosis by identifying mutations in the LMNA gene.
Treatment[edit | edit source]
There is currently no cure for Acrogeria. Treatment is focused on managing symptoms and improving quality of life. This can include physical therapy for joint stiffness and mobility issues, as well as regular monitoring for potential cardiovascular complications.
See Also[edit | edit source]
Acrogeria Resources | |
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Contributors: Prab R. Tumpati, MD