- Posted on- Jun 14, 2016
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Harlequin ichthyosis is a rare, congenital skin condition. It affects the skin over almost the whole body of an infant, and carries a high risk of neonatal death due to severe and life-threatening infection.
Harlequin ichthyosis occurs in approximately one in every 500,000 people. Males and females both are equally vulnerable to this disorder.
Causes of harlequin ichthyosis
Harlequin ichthyosis is caused by a mutation of the ABCA12 gene. This gene helps to direct the production of the ABCA12 protein involved in transporting fats within the epidermis, which is essential for normal skin synthesis. Various mutations are found. Some can stop the production of this protein, or induce the production of an abnormal form of the protein.
Harlequin ichthyosis is inherited in an autosomal recessive fashion, which means patients with this disorder have two copies of the mutated genes, one inherited from each parent. If two people with the mutation have a child, there is a 25% chance that the child will be affected. The parents are carriers of the mutated gene and show no sign of the disease because they have one normal copy which compensates for the defective one.