Blog: Medicine Highlight of Harlequin Ichthyosis
- Titilayo Taoreeed
- Nov 8, 2023
- 1 min read
What is it?
-Harlequin ichthyosis, also known as ichthyosis congenita, is a rare and severe genetic disorder that predominantly affects the skin. The newborn infant is covered with plates of thick skin that can crack and split apart.
Causes?
-This disorder occurs due to a mutation in the ABCA12 gene which affects how the skin develops, leading to the thickened and cracked skin seen in affected infants. It’s essential to provide immediate care for these new-borns in a neonatal intensive care unit.
Symptoms?
Thick scaly , diamond - shaped skin plates separated by deep cracks Restricted movement of the arms , legs , and chest Breathing difficulties and respiratory infections • Delayed physical development Sparse hair • Eyelids , lips , ears and nose deformed or absent • Hearing changes • Feeding difficulties
Who does this affect?
- Harlequin ichthyosis is a rare congenital disease that affects the skin of nearly 1
in 500,000 people.
A child born to parents both of whom are carriers of harlequin ichthyosis has
a 25 percent chance of suffering from the disease.
Treatment?
-Harlequin ichthyosis is a rare genetic disorder that has no cure Treatments include Moisturizing cream . Antibiotics Etretinate or retinoids .NICU care • Rehydration • Prevention of infection . • Bathing frequently using a mild soap - free cleanser to soften the skin and loosen skin scales Rubbing the skin lightly with a loofah rough - textured sponge , or pumice stone to remove scales
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