Harlequin Ichthyosis
Harlequin Ichthyosis is an autosomal recessive skin disorder caused by mutations in the ABCA12 gene (situated on chromosome 2). Infants born with this disorder have hardened skin separated by fissures, which can severely restrict movement. This disease used to be 100% fatal for infants, but modern medicine now allows Harlequin Ichthyosis patients to survive into adulthood. Treatment consists of oral retinoids (in severe cases) and moisturizers to prevent the skin from cracking.
Where are the key differences between Harlequin Ichthyosis and Epidermolysis bullosa because many portray them as the same thing
In Harlequin Ichthyosis, the skin becomes hard and hence cracks due to movement. In Epidermolysis Bullosa, the skin does not have binding protein that gives stability to the skin. The skin is normal but is easily torn off or damaged hence leading to blistering and other complications.
Neimann picks diseaseSkin histologyTinea capitis in the skin.20 años