Superficial epidermolytic ichthyosis caused by a novel KRT2 mutation

Keratins K2 and K10 are essential for the epidermal integrity of plantar skin

“…In humans palmoplantar keratoderma is caused by mutations in structurally diverse proteins including keratins K1, K6, K9, K10 and K16, cornified envelope proteins, connexins, desmosomal proteins and cathepsins [32,33], indicating that various defects in the molecular architecture of plantar epidermis converge into common (or at least similar) clinical phenotypes. Although the rare pathogenic K2 mutations have not been reported to cause palmoplantar keratoderma [6,34,35], and the concomitant inactivation of 2 keratins does not replicate any known human pathology at the molecular level, the Krt2 À/À Krt10 À/À mice represent an interesting model for investigating keratin functions that are relevant for skin diseases.…”

Scabies in a 14‐year‐old girl with superficial epidermolytic ichthyosis

“…Superficial epidermolytic ichthyosis, or ichthyosis bullosa of Siemens, is a rare autosomal dominant non‐syndromic ichthyosis caused by pathogenic variants in the KRT2 gene 1‐4 . It is characterized by childhood‐onset flexural hyperkeratosis, blistering and denuded areas (molting or "mauserung") that improves with age 1‐4 . SEI may be hard to differentiate from epidermolytic ichthyosis (EI), which is caused by pathogenic variants in either KRT1 or KRT10 1‐3 .…”

“…[1][2][3][4] SEI may be hard to differentiate from epidermolytic ichthyosis (EI), which is caused by pathogenic variants in either KRT1 or KRT10. [1][2][3] Because KRT2 is expressed in higher layers of the epidermis than KRT1/KRT10, the blisters in SEI are histologically more superficial. 1 Several pathogenic variants have been identified in the KRT2 gene, but there is only one previous report of the variant detected in our patient.…”

Two cases of ichthyosis and their EPR analyses of stratum corneum

“…2 Superficial epidermolytic ichthyosis (SEI, OMIM 146800), previously known as ichthyosis bullosa of Siemens (IBS), is a rare autosomal dominant skin disorder caused by mutations in the keratin 2 (KRT2) gene. 3 We investigated stratum corneum (SC) radicals of the patients with ichthyosis using the electron paramagnetic resonance (EPR).…”

“…The mutations (p.N186S) in the KRT2 gene were identified. 3 EPR is a technique for measuring the free radicals in a sample at any temperature. 4 The motion of the unpaired spin is affected by the radical moiety and appears in the EPR spectral pattern.…”