Article
Steroid sulfatase and filaggrin mutations in a boy with severe ichthyosis, elevated serum IgE level and moyamoya syndrome.
Gene - 10 Sept 2017
Zhang Qian, Si Nuo, Liu Yaping, Zhang Dong, Wang Rong, Zhang Yan, Wang Shuo, Liu Xingju, Deng Xiaofeng, Ma Yonggang, Ge Peicong, Zhao Jizong, Zhang Xue
Abstract excerpt
X-linked ichthyosis (XLI) is a relatively common, recessive condition caused by mutations in the steroid sulfatase (STS) gene. Common loss-of-function mutations in the filaggrin gene (FLG) cause ichthyosis vulgaris and predispose individuals to atopic eczema. We report a case of a 6-year-old boy who presented with unusually severe XLI, an increased serum immunoglobulin E level (2120IU/ml) and moyamoya angiopathy....
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