Associated Papers
Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort.
Frommherz L et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025
First successful treatment of epidermolytic Ichthyosis with Vunakizumab: A Case Report.
Cheng W et al.
Frontiers in Immunology, 2025
A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis.
Caroppo F et al.
Clinical Case Reports, 2020
Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma.
Smith FJD et al.
Clinical and Experimental Dermatology, 2019
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.
Hotz A et al.
Acta Dermato-venereologica, 2016
Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1.
Sung JY et al.
Journal of Dermatological Science, 2013
Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens.
Tsubota A et al.
The British Journal of Dermatology, 2008
A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1.
Uezato H et al.
The Journal of Dermatology, 2005
Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene.
Terron-Kwiatkowski A et al.
The British Journal of Dermatology, 2004
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