Harlequin Syndrome Research Paper

Decent Essays

Harlequin Ichthyosis, also known as Harlequin syndrome, is a rare genetic skin disorder where the epidermis layer of thin skin is thicker than normal. This disorder is present at birth and is not gender specific. Someone with the disorder would receive a mutated version of the ABCA12 gene from both parents; however, the parents show no signs or symptoms of this genetic mutation. The gene, where the mutation is found present, is responsible for making proteins that are used in the process of normal skin cell development. Because of the mutation, the epidermis endures abnormal development and hard, thick plates of skin are produced. Distortion of the facial features can take place in a newborn with this disorder due to the thick plates of skin

Get Access