Q80.4: Harlequin fetus
The top of layer of skin is made up of skin cells that are keratinized. These skin cells are initially in one of the lower skin layers. When the skin cells migrate upwards toward the skin’s surface, they keratinize, forming a solid layer.
The genetic information in your cells has changed. This disrupts the keratinization of your skin.
The condition causes the skin to form a firm layer even before birth. This firm layer encloses the body like a shell. The firm layer can limit mobility and therefore also impede breathing. You may then be very severely ill. It is also possible for the firm layer to result in malformations. Things like ears, eyelids, lips or fingers may be malformed.
Later, the skin may be red and scaly. You can get colder than usual or lose fluid through the skin. It is also possible for the skin to become inflamed more easily than usual or for large wounds to form.
This disease is hereditary. Other family members may also be affected.
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