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Sheeza Basharat
Sheeza Basharatabout 1 year ago
Harlequin Ichthyosis

Harlequin Ichthyosis

Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Mutations in the ABCA12 gene cause harlequin ichthyosis. It is usually inherited with autosomal recessive trait but could also be x-linked. It is characterized by excessive keratinization of the skin. In severe cases it can produce a grotesque appearance as in this case.The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. By:

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