PDF(Pubmed)
Abstract：
Harlequin ichthyosis (HI) is a severe and rare genetic anomaly that affects skin development and leads to the formation of thick, diamond-shaped plates of keratinized skin. The adenosine triphosphate binding cassette A 12 (ABCA12) gene, which is essential for the transportation of lipids required for the skin\'s barrier function, has mutations that result in this condition. The affected individuals exhibit distinct clinical features, including thickened skin, deep cracks, and fissures, which can result in significant physical and functional impairments. HI is usually apparent at birth, with affected infants presenting with tight and rigid skin that restricts movement and normal growth. The condition is associated with various complications, including difficulty breathing, feeding difficulties, and increased susceptibility to infections. Due to the impaired skin barrier, affected individuals are also prone to dehydration and temperature dysregulation. In this case report, we present a unique case of ichthyosis in a nine-month-old child. Despite advances in medical care, HI remains a challenging condition with a high mortality rate, particularly in the neonatal period. However, with early detection, appropriate interventions, and an improved understanding of the underlying molecular mechanisms, there is hope for enhanced management and improved quality of life for individuals living with HI.
摘要：
丑角鱼鳞病（HI）是一种严重且罕见的遗传异常，会影响皮肤发育并导致厚厚的形成，角化皮肤的菱形板。三磷酸腺苷结合盒A12（ABCA12）基因，这对于皮肤屏障功能所需的脂质运输至关重要，有导致这种情况的突变。受影响的个体表现出不同的临床特征，包括增厚的皮肤，深裂缝,和裂缝，这可能导致严重的身体和功能损害。HI通常在出生时很明显，受影响的婴儿表现出紧张和僵硬的皮肤，限制了运动和正常生长。这种情况与各种并发症有关，包括呼吸困难,喂养困难，和增加对感染的易感性。由于皮肤屏障受损，受影响的个体也容易脱水和体温失调。在这个案例报告中,我们在一个9个月大的儿童中介绍了一个独特的鱼鳞病病例。尽管在医疗方面取得了进步,HI仍然是一种具有挑战性的疾病，死亡率很高，尤其是在新生儿期。然而,通过早期检测，适当的干预措施，以及对潜在分子机制的更好理解，有希望加强管理和提高生活质量的人与HI。
