Özet:

Harlequin Ichthyosis is the most serious congenital keratinization disorder. When the children are born, they are enveloped in thick horn armor. They are thick yellow horn plates that tear deeply when they dry out. In the most severe form, the children often die in the first few weeks of life. But there are also many milder courses, whereby there are obviously flowing transitions from collodion baby to harlequin ichthyosis. The skin condition later corresponds to that of a child with severe congenital ichthyosis (ARCI). Similar to the collodion baby, cases of harlequin ichthyosis should initially be cared for in the intensive care unit for newborns and require interdisciplinary therapy. Harlequin ichthyosis is caused by very special mutations in the ABCA12 gene. These mutations also have an impact on survival. If homozygous mutations are present, the prospects are worse than if the parents have heterozygous mutations. Homozygous mutations are often present when the parents are consanguineous. 

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