Ziske Maritska, Sandria Sandria, Nunung Noviyanti, U. M. Lubis, Maretha W. Astria, Merta A. Prastika, Priya A. Chandra, Raden Satria Surya Chandra
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引用次数: 0
摘要
鱼鳞病是一种皮肤病，会导致身体多处皮肤干燥、粗糙和脱屑。全世界每 10 万人中就有 5-10 人患有鱼鳞病。板层状鱼鳞病（LI）是常染色体隐性遗传先天性鱼鳞病的一部分，也是一种重要的非综合征遗传性鱼鳞病。鱼鳞病患者容易抑郁，生活质量低下。TGM1基因是影响LI的主要基因。鳞屑性鱼鳞病的临床表现为下肢大面积鳞屑，因此，治疗鳞屑性鱼鳞病的方法包括补充水分、角质溶解剂和口服维甲酸。此外，还建议为 LI 患者及其家属提供遗传咨询。本综述简要讨论了 LI 的遗传学。
Ichthyosis is a dermatological condition that causes the skin in a wide range of integumentary regions of the body to become dry, rough, and scaly. Ichthyosis affect 5–10/100 000 people worldwide. Lamellar ichthyosis (LI) is part of autosomal recessive congenital ichthyosis and is a significant type of inherited ichthyosis in no-syndromic form. Patients with LI are susceptible to depression and low quality of life. TGM1 gene is the primary gene affected in LI. Clinical manifestations of LI are large scales on lower extremities; hence, the management of LI would consist of hydration, keratolytic, and oral retinoid. Genetic counseling are also recommended for patients with LI and their families. This review provides a brief discussion on the genetics of LI.
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