harlequin type ichthyosis n.
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Harlequin-type ichthyosis : - PowerPoint PPT Presentation


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Harlequin-type ichthyosis :. It is a congenital (involves defects in or damage to a developing fetus) disease. Characteristics:. Characterized by a thickening of the keratin layer in fetal human skin. The skin contains massive, diamond-shaped scales, and tends to have a reddish color.

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Characteristics:

Characterized by a thickening of the keratin layer in fetal human skin. The skin contains massive, diamond-shaped scales, and tends to have a reddish color.

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The scaly keratin greatly limits the child's movement. Because the skin is cracked where normal skin would fold, it is easily pregnable by bacteria and other contaminants, resulting in serious risk of fatal infection.

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It presents hypoplasia (incomplete development) in fingers. Arms, feet, and fingers are almost always deformed in such a way that they cannot bend properly, and may be below the normal size.

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On the opposite side they can present polydactyly, a condition in which one has more than the usual number of toes or fingers.They also present severe cranial and facial deformities.

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The eyes, ears, mouth, and other appendages may be abnormally contracted. The ears may be very poorly developed or absent entirely, as may the nose. The eyelids are severely everted (turns outwards), which leaves the eyes and the area around them very susceptible to infection. The lips, pulled by the dry skin, are fixed into a wide grimace.

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They are extremely susceptible to changes in temperature. This can result in hyperthermia (is an elevated body temperature due to failed thermoregulation). Hyperthermia occurs when the body produces or absorbs more heat than it can dissipate.

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They often bleed upon birth.Their respiration is also restricted by the skin, which impedes the chest wall from expanding and drawing in enough air. This can lead to hypoventilation and respiratory failure. Harlequins are often dehydrated, as their plated skin is not well suited to keeping water in.