Tag: genetic skin disorder

  • Recessive X-linked Ichthyosis

    Recessive X-linked Ichthyosis: Definition and Description of Recessive X-linked Ichthyosis: Recessive X-linked Ichthyosis (RXLI) is a genetic skin disorder primarily affecting males, characterized by dry, scaly skin. It results from mutations in the STS gene, which is located on the X chromosome. This disorder disrupts the normal functioning of the enzyme steroid sulfatase, leading to…

  • Non-Scarring Epidermolysis Bullosa

    Non-Scarring Epidermolysis Bullosa: Definition and Description of Non-Scarring Epidermolysis Bullosa: Non-Scarring Epidermolysis Bullosa (non-scarring EB) is a rare genetic skin disorder characterized by fragile skin that blisters easily, particularly in response to injury or friction. Unlike other forms of epidermolysis bullosa, non-scarring EB does not lead to permanent scarring on the skin. The condition results…

  • Localized Epidermolysis Bullosa

    Localized Epidermolysis Bullosa Definition and Description of Localized Epidermolysis Bullosa Localized Epidermolysis Bullosa (LEB) is a genetic skin disorder characterized by the formation of blisters and erosions in response to minor trauma or friction. This condition primarily affects the upper layers of the skin, specifically the epidermis, leading to fragile skin that is prone to…