PRESENTATION OUTLINE
HARLEQUIN TYPE ICHTHYOSIS is the full name for this genetic condition. It is a very rare genetic disorder that affects 1 in 300,000 babies
Harlequin is a serve skin disorder that causes thickening of the skin. It encases the whole body in thick white plates that are seperated by cracks at birth. Babies with harelquin suffer many deformities with limbs, head and eyes and ears
Many newborns do not live past their first few days. The cracked skin leaves the baby suspectible to bleeding, infections and have trouble breathing because of having tight skin. The skin also needs to be constantly moisturised or else they can easily dehydrate
Harlequin can be diagnosed inside the uterus with ultrasound. It is caused by a mutation of the gene that makes the protein ABCA12. There is no cure to this but it can be treated
