鱼鳞蛋白(NIPAL4)-常染色体隐性先天性鱼鳞病伴特应性:1例报告并文献复习

IF 0.2 Q4 DERMATOLOGY Journal of Dermatology & Dermatologic Surgery-JDDS Pub Date : 2016-01-01 DOI:10.1016/j.jdds.2015.07.002

Yousef Binamer

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引用次数: 2

摘要

常染色体隐性先天性鱼鳞病(ARCI)是一种罕见的多种突变的鱼鳞病。在大约18%的病例中鉴定出鱼鳞素(NIPAL4)基因突变。除了常见的鱼鳞病表型外，我们还提出了一种新的关联，即在ARCI和多重过敏的特应性素质之间存在关联。据我们所知，这是第二个报告ARCI与特应性素质之间存在这种关联的病例。

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Ichthyin (NIPAL4)-autosomal recessive congenital ichthyosis with atopic diathesis: Case report and literature review

Autosomal recessive congenital ichthyosis (ARCI), is a rare form of ichthyosis with multiple mutations identified. Ichthyin (NIPAL4) gene mutation is identified in about 18% of cases. In addition to the usual ichthyosis phenotype we are presenting a new association between ARCI and atopic diathesis with multiple allergies. To the best of our knowledge this is the second case to report such an association between ARCI and atopic diathesis.

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Journal of Dermatology & Dermatologic Surgery-JDDS DERMATOLOGY-

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16 weeks