What is Harlequin Ichthyosis?

Harlequin-like ichthyosis is a serious subtype of autosomal recessive ichthyosis. Often with significant clinical manifestations, most children die still or die early postpartum. Recently, research on the genetic pathogenesis of harlequin-like ichthyosis has made great progress, and the pathogenic genes and related molecules leading to the pathogenesis of harlequin-like ichthyosis have been discovered.

Harlequin Ichthyosis

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Harlequin-like ichthyosis is

At present, ABCA12 is considered to be a keratinocyte lipid transporter involved in lipid transport in the keratin envelope. The loss of its function leads to obstacles in the lipid transport of the stratum corneum and thus causes the pathogenesis of ichthyosis.

a is the most severe form of non-bulbulous congenital ichthyosis,

b The skin is affected during embryonic development,

c The fetus is covered with thick keratinous thyroid plaques,

d Absent or stunted ears, significant valgus and ectropion, harlequin face,

e Most often become stillbirths in the mother's abdomen, or die early in the postpartum period due to inability to pump breasts, restricted breathing, or dysplasia of other organs.

Symptoms of fetal ichthyosis are more severe than those of gel-like babies, and their prognosis is worse. Most of them die in the womb or prematurely, and most of those who give birth also die soon after birth.

1. Patients with ichthyosis should eat more fruits and vegetables containing vitamins C, A, and E. Such as fresh oranges, pears, apples, bananas, watermelons, tomatoes, radishes and so on. Eat more pig liver, the internal organs of animals contain a lot of vitamin A, as well as carrots, cream, sweet potatoes, cod liver oil, chlorophyll, and pig liver, which are good for dry skin. Fresh vegetables and fruits are rich in vitamins, which can supplement the body's vitamins. It is good to eat fresh fruits and vegetables often.

2, jujube sugar: 500g of honey, 300g of rock sugar, 60g of black sesame, 200g of black jujube, cook the jujube first, peel the core, smash the meat, add black sesame, and boil the honey until it becomes a paste Add jujube puree and black sesame seeds and cut into sugar cubes. It is often eaten by patients with ichthyosis.

3. Supplementation of vitamin A to patients with ichthyosis can effectively alleviate the symptoms of ichthyosis. Patients can take vitamin A orally or intramuscularly, topical urea cream, cod liver oil ointment or low concentration retinoic acid cream. Vitamin A is a fat-soluble vitamin, which should be taken after meals and not overdose.