Two cases of KRT1 mutation-associated epidermolytic ichthyosis without typical epidermolytic hyperkeratosis in the neonatal skin lesions

Taehee Kim; Soo-Chan Kim; Sang Eun Lee

doi:10.1111/pde.15354

Two cases of KRT1 mutation-associated epidermolytic ichthyosis without typical epidermolytic hyperkeratosis in the neonatal skin lesions

Pediatr Dermatol. 2023 Nov-Dec;40(6):1149-1151. doi: 10.1111/pde.15354. Epub 2023 May 11.

Authors

Taehee Kim¹, Soo-Chan Kim², Sang Eun Lee¹

Affiliations

¹ Department of Dermatology, Gangnam Severance Hospital, Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, South Korea.
² Department of Dermatology, Yongin Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.

PMID: 37170713
DOI: 10.1111/pde.15354

Abstract

Epidermolytic ichthyosis (EI) is a rare genetic disorder of keratinization caused by mutations in either KRT1 or KRT10. Histopathologically, epidermolytic hyperkeratosis (EHK) is a hallmark of EI. Here, we report two EI cases in which KRT1 mutation was confirmed by molecular study, but without typical EHK present on skin biopsies performed within 1 week of age. Our cases demonstrate that EHK may not be evident in EI if skin biopsy is performed during the neonatal period.

Keywords: dermatopathology; genodermatoses; ichthyosis.

Publication types

Case Reports

MeSH terms

Biopsy
Humans
Hyperkeratosis, Epidermolytic* / diagnosis
Hyperkeratosis, Epidermolytic* / genetics
Infant, Newborn
Keratin-1 / genetics
Mutation
Skin / pathology

Substances

KRT1 protein, human
Keratin-1