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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...

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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:
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
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author Suzuki, Yuika
Takeichi, Takuya
Tanahashi, Kana
Muro, Yoshinao
Suga, Yasushi
Ogi, Tomoo
Akiyama, Masashi
author_facet Suzuki, Yuika
Takeichi, Takuya
Tanahashi, Kana
Muro, Yoshinao
Suga, Yasushi
Ogi, Tomoo
Akiyama, Masashi
author_sort Suzuki, Yuika
collection PubMed
description 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 mutation. One of the two patients had disease onset at the age of 7 months. The other patient’s age of onset is unknown, but it was in childhood. Neither of the two patients showed erythroderma. To perform deep phenotyping, we studied the age of onset and the frequency of erythroderma in 34 reported SEI cases with the p.Glu487Lys mutation, including the present cases. Among the cases with sufficient clinical information, 44.4% of the cases that were due to p.Glu487Lys in KRT2 occurred at birth. Erythroderma was observed in 11.1% of the cases with p.Glu487Lys in KRT2.
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spelling pubmed-93175002022-07-27 Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2 Suzuki, Yuika Takeichi, Takuya Tanahashi, Kana Muro, Yoshinao Suga, Yasushi Ogi, Tomoo Akiyama, Masashi Int J Mol Sci Case Report 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 mutation. One of the two patients had disease onset at the age of 7 months. The other patient’s age of onset is unknown, but it was in childhood. Neither of the two patients showed erythroderma. To perform deep phenotyping, we studied the age of onset and the frequency of erythroderma in 34 reported SEI cases with the p.Glu487Lys mutation, including the present cases. Among the cases with sufficient clinical information, 44.4% of the cases that were due to p.Glu487Lys in KRT2 occurred at birth. Erythroderma was observed in 11.1% of the cases with p.Glu487Lys in KRT2. MDPI 2022-07-14 /pmc/articles/PMC9317500/ /pubmed/35887135 http://dx.doi.org/10.3390/ijms23147791 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Suzuki, Yuika
Takeichi, Takuya
Tanahashi, Kana
Muro, Yoshinao
Suga, Yasushi
Ogi, Tomoo
Akiyama, Masashi
Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2
title Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2
title_full Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2
title_fullStr Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2
title_full_unstemmed Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2
title_short Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2
title_sort deep phenotyping of superficial epidermolytic ichthyosis due to a recurrent mutation in krt2
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9317500/
https://www.ncbi.nlm.nih.gov/pubmed/35887135
http://dx.doi.org/10.3390/ijms23147791
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