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

• DOI: 10.1111/pde.15354
• Publication Date: 2023-05-12T05:44:56Z
• Authors: Taehee Kim; Soo‐Chan Kim; Sang Eun Lee
• Keywords: Hyperkeratosis, Epidermolytic; Biopsy; Mutation; Infant, Newborn; Humans; Keratin-1; 3. Good health; Skin

AbstractEpidermolytic 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.