期刊文献+

先天性鱼鳞癣样红皮病患者SPINK5的突变:分子检测是诊断内瑟顿综合征(伴有结节毛的鱼鳞癣)的有效工具

Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: Molecular testing as a helpful diagnostic tool for Netherton syndrome
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摘要 The congenital erythrodermas represent a heterogeneous group of inherited and acquired disorders often accompanied by systemic infections, impaired epidermal barrier function and concomitant life-threatening fluid and electrolyte imbalance. In the present report, we describe a patient who was considered to have congenital ichthyosiform erythroderma for 26 years until molecular testing led to the correct diagnosis of Netherton syndrome. The congenital erythrodermas represent a heterogeneous group of inherited and acquired disorders often accompanied by systemic infections, impaired epidermal barrier function and concomitant life-threatening fluid and electrolyte imbalance. In the present report, we describe a patient who was considered to have congenital ichthyosiform erythroderma for 26 years until molecular testing led to the correct diagnosis of Netherton syndrome.
出处 《世界核心医学期刊文摘(皮肤病学分册)》 2005年第2期34-34,共1页 Digest of the World Core Medical JOurnals:Dermatology
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