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
さらに表示
一部表示
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)
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 ...
関連する質問
What is the life expectancy of a person with harlequin ichthyosis?
How painful is harlequin ichthyosis?
Can harlequin ichthyosis be cured?
Can a baby survive harlequin ichthyosis?
Harlequin type ichthyosis congenital. Hemolytic anemia due to red cell pyruvate kinase deficiency. Hemophagocytic lymphohistiocytosis. Hemophilia A. Hemophilia ...
2019/03/25 · Skin of children with Harlequin fetus.Harlequin type ichthyosis syndrome.Dry skin, severely cracked.Genetic skin diseases.Focus selection.
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<jats:title>Abstract</jats:title><jats:p>Two cases of harlequin ichthyosis were successfully diagnosed prenatally by fetal skin biopsy.
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。
Michal Jan Winter - Harlequin Ichthyosisさんがカバー写真を変更しました。