Harlequin Ichthyosis Summary

In the medical journal article “Harlequin Ichthyosis”, the authors Claire A. Scott, Shefali Rajpopat, and Wei-Li Di explain how ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin barrier dysfunction. HI was first talked about in the diary of Reverend Oliver Hart, in which most cases babies born with this die. The diagnosis is most often clinical and the effects are apparent at birth. The entire body is covered in a thick layer of white plates of scales separated by deep re fissures. The thickened skin can restrict movement and cause limb contractures, inevitably causing digital necrosis.