Epidermolytic Hyperkeratosis

Foster, Mallory L; Jones, Jeffrey S.; Schadt, Courtney R.

doi:10.1001/jamadermatol.2021.2325

Cited by 1 publication

(1 citation statement)

References 4 publications

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“…However, immune responses to the IL-17 or IL-23 pathway with mutation-derived barrier dysfunction might be a novel therapeutic target for ichthyosis [5]. Indeed, a case report demonstrated ustekinumab, an anti-IL-12/23 p40 monoclonal antibody, is efficacious for severe EI [6]. In contrast, a double-blind, randomized, placebo-controlled trial of secukinumab, an anti-IL-17A monoclonal antibody, revealed that IL-17A inhibition is not effective for ichthyoses, including EI [7].…”

Section: Discussionmentioning

confidence: 99%

A Case of Epidermolytic Ichthyosis with Massive Hyperkeratosis Successfully Treated with Systemic Etretinate

2023

Clin Exp Dermatol Ther

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A 2-day-old female infant was referred to our department because of diffuse erythema, blistering, and denuded skin over the body. Her skin had decreased blistering, however, diffuse erythema with scaling became more prominent with age. Histopathology showed marked orthohyperkeratosis and acanthosis accompanied by granular degeneration. Mutational analysis for KRT10 revealed a previously reported variant, c.467G>A (p.Arg156His) in the heterozygous state. Taken together, the diagnosis of Epidermolytic Ichthyosis (EI) caused by a KRT10 variant was confirmed. Oral retinoids dramatically decreased the hyperkeratosis. Among reported cases of EI caused by mutations in KRT10, the most frequent mutation is Arg156His. Most patients with EI reported in the literature with mutations at Arg156 have a severe phenotype. This arginine residue and the surrounding residues are conserved in all type I keratins throughout evolution. These findings suggest that the arginine residue is structurally critical to the formation of the keratin filament network. In patients with EI, epidermal barrier function is decreased, indicating that the phenotype of EI can result from not only aberrant keratinization but also mutational skin barrier defects. Etretinate is a retinoid that encourages desquamation and can induce prompt keratinization. It has been reported that retinoid therapy is much more effective in patients with KRT10 mutations compared to those with KRT1 mutations. In addition, EI patients with more extensive involvement benefit more from retinoids than those with mild or limited involvement. Therefore, retinoid should be considered as the first therapeutic option for severe EI and EI caused by KRT10 mutations.

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Section: Discussionmentioning

confidence: 99%

A Case of Epidermolytic Ichthyosis with Massive Hyperkeratosis Successfully Treated with Systemic Etretinate

2023

Clin Exp Dermatol Ther

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Epidermolytic Hyperkeratosis

Cited by 1 publication

References 4 publications

A Case of Epidermolytic Ichthyosis with Massive Hyperkeratosis Successfully Treated with Systemic Etretinate

A Case of Epidermolytic Ichthyosis with Massive Hyperkeratosis Successfully Treated with Systemic Etretinate

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