Epidermolytic epidermal nevus caused by a somatic mutation in KRT2

Janan Mohamad; Liat Samuelov; Sari Assaf; Dan Vodo; Ofer Sarig; Eli Sprecher

doi:10.1111/pde.14529

Epidermolytic epidermal nevus caused by a somatic mutation in KRT2

Janan Mohamad
, Liat Samuelov
, Sari Assaf
, Dan Vodo
, Ofer Sarig
, Eli Sprecher^*

^*Corresponding author for this work

Tel Aviv Sourasky Medical Center

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Abstract

Superficial epidermolytic ichthyosis (formerly Ichthyosis bullosa of Siemens) is an uncommon condition caused by dominant mutations in KRT2 encoding keratin 2. Epidermolytic epidermal nevus due to somatic mutations in KRT2 is even rarer. Here, we report the third case of KRT2-associated epidermal nevus and review the literature.

Original language	English
Pages (from-to)	538-540
Number of pages	3
Journal	Pediatric Dermatology
Volume	38
Issue number	2
DOIs	https://doi.org/10.1111/pde.14529
State	Published - 1 Mar 2021

Keywords

KRT2
epidermal nevus
somatic mutation
superficial epidermolytic ichthyosis

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10.1111/pde.14529

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title = "Epidermolytic epidermal nevus caused by a somatic mutation in KRT2",

abstract = "Superficial epidermolytic ichthyosis (formerly Ichthyosis bullosa of Siemens) is an uncommon condition caused by dominant mutations in KRT2 encoding keratin 2. Epidermolytic epidermal nevus due to somatic mutations in KRT2 is even rarer. Here, we report the third case of KRT2-associated epidermal nevus and review the literature.",

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author = "Janan Mohamad and Liat Samuelov and Sari Assaf and Dan Vodo and Ofer Sarig and Eli Sprecher",

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AU - Assaf, Sari

AU - Vodo, Dan

AU - Sarig, Ofer

AU - Sprecher, Eli

PY - 2021/3/1

Y1 - 2021/3/1

N2 - Superficial epidermolytic ichthyosis (formerly Ichthyosis bullosa of Siemens) is an uncommon condition caused by dominant mutations in KRT2 encoding keratin 2. Epidermolytic epidermal nevus due to somatic mutations in KRT2 is even rarer. Here, we report the third case of KRT2-associated epidermal nevus and review the literature.

AB - Superficial epidermolytic ichthyosis (formerly Ichthyosis bullosa of Siemens) is an uncommon condition caused by dominant mutations in KRT2 encoding keratin 2. Epidermolytic epidermal nevus due to somatic mutations in KRT2 is even rarer. Here, we report the third case of KRT2-associated epidermal nevus and review the literature.

KW - KRT2

KW - epidermal nevus

KW - somatic mutation

KW - superficial epidermolytic ichthyosis

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Epidermolytic epidermal nevus caused by a somatic mutation in KRT2

Abstract

Keywords

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