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Harlequin-type ichthyosis (also known as "Harlequin baby",〔 ''Harlequin ichthyosis'', hyosis fetalis'', ''keratosis diffusa fetalis'', "Harlequin fetus",〔James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. ISBN 0-7216-2921-0.〕 and "Ichthyosis congenita gravior"〔), is a severe genetic skin disease, which causes the dermis to be around 10 times thicker than normal and grow at an exceptionally fast rate. At birth, the child’s whole body is encased in an ‘armour’ of thick white plates of skin, separated with deep cracks. In addition, the eyes, ears, penis, and the appendages may be abnormally contracted. Because of resultant cracked skin in locations where normal skin would fold, it is easily pregnable by bacteria and other contaminants, which can result in serious risk of fatal infection. Constant care is required to moisturise and protect the skin.〔(【引用サイトリンク】url=http://www.shhirt.org.uk/harlequin-ichthyosis/ )〕 The ''harlequin-type'' designation comes from the diamond shape of the scales at birth (resembling the costume of Arlecchino), caused by severe hyperkeratosis. The disease can be diagnosed in the uterus by way of fetal skin biopsy or by morphologic analysis of amniotic fluid cells obtained by amniocentesis. Doctors can now usually recognize common features of the disease through ultrasound, and follow up with 3D ultrasound to diagnose the condition. It is associated with a mutation in the gene for the protein ''ABCA12''. ==Signs and symptoms== Sufferers feature severe cranial and facial deformities. The ears may be very poorly developed or absent entirely, as may the nose. The eyelids may be everted (ectropion), which leaves the eyes and the area around them very susceptible to infection. Babies with this condition often bleed during birth. The lips are pulled back by the dry skin (eclabium). Joints are sometimes lacking in movement, and may be below the normal size. Hypoplasia is sometimes found in the fingers. Polydactyly has also been found on occasion. Patients with this condition are extremely sensitive to changes in temperature due to their hard cracked skin, which prevents normal heat loss. 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 retaining water. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Harlequin-type ichthyosis」の詳細全文を読む スポンサード リンク
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