病理学
鱼鳞病
板层鱼鳞病
角化不良
角化过度
皮肤病科
表型
医学
红皮病
生物
病理
遗传学
基因
疾病
作者
Takuya Takeichi,Yoichi Ito,John Y.W. Lee,Chiaki Murase,Yusuke Okuno,Yoshinao Muro,John A. McGrath,Masashi Akiyama
摘要
Recently, Gong et al. reported two substitutions, p.(Gly50Glu) and p.(Gly50Arg), located at the last amino acid of the estimated signal peptide in kallikrein11 (KLK11) in three independent ichthyosiform erythroderma or erythrokeratoderma pedigrees (Gong et al., Br J Dermatol, 2023). Here, we present a further case of autosomal dominant congenital ichthyosiform erythroderma caused by the p.(Gly50Glu) substitution in KLK11; the patient had sharply demarcated pigmented hyperkeratotic lesions. Thus, p.(Gly50Glu) in KLK11 might represent a recurrent variant underlying this recently reported autosomal dominant disorder of cornification, and the large hyperkeratotic pigmented plaques seen in all patients may represent a pathognomonic part of the phenotype.
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