Article
Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2.
International journal of molecular sciences - 14 Jul 2022
Suzuki Yuika, Takeichi Takuya, Tanahashi Kana, Muro Yoshinao, Suga Yasushi, Ogi Tomoo, Akiyama Masashi
Abstract excerpt
Superficial epidermolytic ichthyosis (SEI) is an autosomal dominant inherited ichthyosis. SEI is caused by mutations in KRT2 and frequently shows erythroderma and widespread blistering at birth. We report the clinical manifestations of two patients from a Japanese family with SEI caused by a hotspot mutation, p.Glu487Lys, in KRT2. In addition, we summarize previous reports on SEI patients with the identical...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.