Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Suzuki, Yuika, Takeichi, Takuya, Tanahashi, Kana, Muro, Yoshinao, Suga, Yasushi, Ogi, Tomoo, Akiyama, Masashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9317500/
https://www.ncbi.nlm.nih.gov/pubmed/35887135
http://dx.doi.org/10.3390/ijms23147791

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9317500/
https://www.ncbi.nlm.nih.gov/pubmed/35887135
http://dx.doi.org/10.3390/ijms23147791

Ejemplares similares