ハーレークイン魚鱗癬 (Harlequin-type ichthyosis)
疾患
道化師様魚鱗癬は、出生時にほぼ全身の皮膚が肥厚する遺伝性疾患である。皮膚は、深い亀裂によって分離され、大きなダイヤモンド/台形/長方形のプレートを形成する。これらはまぶた、鼻、口、耳の形に影響を与え、腕と脚の動きを制限する。胸の動きが制限される場合、呼吸困難につながる可能性がある。 ウィキペディア
予後： Death in the first month is relatively common
合併症： Breathing problems, infection, problems with body temperature, dehydration
治療： Supportive care, moisturizing cream
症状： Very thick skin which cracks, abnormal facial features
診断法： Based on appearance and genetic testing
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期間: 13:24
投稿: 2021/08/03
投稿: 2021/08/03
Harlequin ichthyosis (HI), which is the most severe genodermatosis, is caused by loss-of-function mutations in ABCA12, a member of the ATP-binding cassette ...
Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms. · J Dermatol Sci 42:83-9 (2006)
関連する質問
What is the life expectancy of a person with harlequin ichthyosis?
Can a baby survive harlequin ichthyosis?
How painful is harlequin ichthyosis?
Can harlequin ichthyosis be cured?
道化師様魚鱗癬（どうけしようぎょりんせん、英語：Harlequin-type ichthyosis）は、出生時にほぼ全身の皮膚が肥厚する遺伝性疾患である。皮膚は、深い亀裂によって分離 ...
2019/03/25 · Skin of children with Harlequin fetus.Harlequin type ichthyosis syndrome.Dry skin, severely cracked.Genetic skin diseases.Focus selection.
Harlequin type ichthyosis congenital. Hemolytic anemia due to red cell pyruvate kinase deficiency. Hemophagocytic lymphohistiocytosis. Hemophilia A. Hemophilia ...
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<jats:title>Abstract</jats:title><jats:p>Two cases of harlequin ichthyosis were successfully diagnosed prenatally by fetal skin biopsy.
Michal Jan Winter - Harlequin Ichthyosisさんがカバー写真を変更しました。
Harlequin Ichthyosis and the Man Who Thought He Was Tree - Spotify
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Harlequin Ichthyosis and the Man Who Thought He Was Tree」をSpotifyで聴こう。Enso Anima · 楽曲 · 2021。