Harlequin Ichthyosis: A Rare Genetic Disorder
Juvenile Idiopathic Arthritis In Infant With Harlequin Ichthyosis from journal.medizzy.com Introduction Harlequin Ichthyosis is a rare genetic disorder that affects the skin, making it thick and scaly. Babies born with this condition have thick, diamond-shaped plates of skin that are separated by deep, red cracks. The condition is caused by a mutation in the ABCA12 gene, which is responsible for the production of a protein that helps to form the skin's outermost layer. Symptoms The symptoms of Harlequin Ichthyosis include thick, scaly skin that covers the entire body, including the face, ears, and scalp. The skin is often cracked and prone to infection, which can lead to serious health problems. Babies with Harlequin Ichthyosis may also have difficulty breathing due to the tightness of the skin around their chest. Treatment There is no cure for Harlequin Ichthyosis, but treatment can help to manage the symptoms. Regular moisturizing and skin exfoliation can help to reduce th