asiakiriin
Asiakiriin is a rare genetic disorder that affects the skin and can also impact internal organs. It is characterized by a deficiency in the enzyme responsible for producing a specific type of collagen, a crucial protein for the structure and integrity of connective tissues. This deficiency leads to a breakdown in the skin's ability to maintain its elasticity and strength.
Individuals with asiakiriin often present with fragile, easily bruised skin that may blister or tear with minimal
The diagnosis of asiakiriin is typically based on clinical presentation and confirmed through genetic testing that