Epidermolysis bullosa (EB) comprises a heterogeneous group of rare hereditary genodermatoses
characterized by increased mucocutaneous fragility and blisters induced by mild trauma.
EBS is the most common type, exhibiting skin blistering within the basal or suprabasal
layer of the epidermis[
[1]
]. Up to now, more than 75% of EBS cases can be ascribed to heterozygous or homozygous
variants in KRT5 (OMIM # 148040) and KRT14 (OMIM # 148066)[
[1]
]. Herein, we present two patients in a family with autosomal-dominant EBS with hyperpigmentation
harboring a previously unreported heterozygous large deletion of KRT14.Keywords
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References
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Article info
Publication history
Accepted:
March 6,
2023
Received in revised form:
February 9,
2023
Received:
November 16,
2022
Publication stage
In Press Journal Pre-ProofIdentification
Copyright
© 2023 Japanese Society for Investigative Dermatology. Published by Elsevier B.V. All rights reserved.
