What does Harlequin Syndrome look like?
It’s a type of ichthyosis, which refers to a group of disorders that cause persistently dry, scaly skin all over the body. The skin of a newborn with Harlequin ichthyosis is covered with thick, diamond-shaped plates that resemble fish scales. On the face, these plates can make it hard to breathe and eat.
What causes Harlequin disease?
Harlequin ichthyosis is caused by changes (mutations) in the ABCA12 gene, which gives instructions for making a protein that is necessary for skin cells to develop normally. It plays a key role in the transport of fats (lipids) to most superficial layer of the skin (epidermis), creating an effective skin barrier.
Are harlequin babies in pain?
Harlequin ichthyosis is characterized by defective keratinization and desquamation of the epidermis which is very painful. Pain management in the neonate entails a proper balance between pain relief and avoidance of serious adverse effects which is a major challenge for caregivers.
Is Harlequin Syndrome life threatening?
Infants with harlequin ichthyosis often experience an excessive loss of fluids (dehydration) and develop life-threatening infections in the first few weeks of life. Following the newborn period, the hard, skin plates are shed and the skin develops widespread scales and redness.
Why do harlequin babies have red eyes?
The newborn child is covered with plates of thick skin that crack and split apart. The thick skin plates can pull at and distort facial features. The tightness of the skin pulls around the eyes and the mouth, forcing the eyelids and lips to turn inside out, revealing the red inner linings.
How does harlequin ichthyosis affect humans?
Harlequin-type ichthyosis is a genetic disorder that results in thickened skin over nearly the entire body at birth. The skin forms large, diamond/trapezoid/rectangle-shaped plates that are separated by deep cracks. These affect the shape of the eyelids, nose, mouth, and ears and limit movement of the arms and legs.
What genes cause harlequin ichthyosis?
Variants (also known as mutations) in the ABCA12 gene cause harlequin ichthyosis. The ABCA12 gene provides instructions for making a protein that is essential for the normal development of skin cells.
What lotion works best for ichthyosis?
Take baths as often as directed. Soaking helps hydrate your skin and soften the scale.
Can the child live if it has harlequin ichthyosis?
It used to be very rare for affected infants to survive the newborn period. However, with intensive medical support and improved treatment, people with this disorder now have a better chance of living into childhood and adolescence. Harlequin ichthyosis is very rare; its exact incidence is unknown.
What is Harlequin baby syndrome?
Harlequin ichthyosis, also known as a harlequin baby syndrome, is a rare, recessive inherited condition that affects the skin. It is characterized by dry and scaly skin that resembles diamond-shaped plates and cover the entire body. Since it covers the whole body, these scales often make it hard for the child to breathe, drink, and eat.
Is ichthyosis an autoimmune condition?
Ichthyosis is not one disease, but a family of about 20 skin conditions that lead to dry skin. They also make new skin cells too quickly or shed old cells too slowly. This leads to a buildup of thick, scaly skin. The condition gets its name from the Greek word for fish, because the skin looks like fish scales.