ichthyóza

Ichthyosis is a group of genetic skin disorders characterized by dry, thickened, and scaly skin. The name derives from the Greek word "ichthys," meaning fish, referring to the fish-like appearance of the skin in some forms. These conditions are typically lifelong and vary widely in severity, from mild dryness to extensive, deeply fissured scales that can cover the entire body.

The underlying cause of ichthyosis is a mutation in genes that affect skin barrier function. These mutations can disrupt the normal process of skin cell production, maturation, and shedding, leading to the accumulation of dead skin cells on the surface. There are over 30 different types of ichthyosis, with the most common being ichthyosis vulgaris, which is often inherited in an autosomal dominant pattern. Other forms, such as lamellar ichthyosis and congenital ichthyosiform erythroderma, can be inherited in an autosomal recessive pattern and are often more severe.

Diagnosis is usually made based on the characteristic appearance of the skin and family history. Genetic testing can confirm the specific type of ichthyosis. While there is no cure for ichthyosis, management focuses on controlling symptoms and improving skin hydration. This typically involves regular bathing with gentle cleansers and the liberal use of emollients and keratolytics to soften and remove scales. Moisturizing is crucial to prevent dryness and cracking, which can lead to infections and discomfort. Individuals with ichthyosis may also experience associated issues such as heat intolerance and increased susceptibility to infections.