Publication: Superficial Epidermolytic Ichthyosis: Clinical and Histopathological Features in Two Siblings
Date
2025
Authors
Article Type
Case Report
Journal Title
Journal ISSN
ISSN 2091-0231 eISSN 2091-167X
Volume Title
Pages
Pages: 40 - 43
Publisher
Society of Dermatologists, Venereologists and Leprologists of Nepal (SODVELON)
Abstract
Abstract:
Superficial epidermolytic ichthyosis (SEI), a type of keratinopathic ichthyosis (KPI) caused by mutations in the K2e gene, is clinically characterized by superficial blistering, hyperkeratosis predominantly involving flexures and joints, Mauserung phenomenon and epidermolytic hyperkeratosis (EHK) on ultrastructural studies. Though it has been known to mankind for ages, very few families afflicted with this disease are described in the literature and its exact prevalence in the Indian population is yet undetermined. Through this case report, we wanted to highlight its various peculiar manifestations and reiterate the importance of meticulous clinical evaluation and clinicopathological correlation, especially in resource-limited settings, for effective patient management.
Description
Author Biographies
Pooja Shah, GMERS Medical College & Hospital, Gandhinagar, India
Senior Resident, Department of Dermatology, GMERS Medical College & Hospital, Gandhinagar, India
Bela Padhiar, GMERS Medical College & Hospital, Gandhinagar, India
Professor and Head , Department of Dermatology, GMERS Medical College & Hospital, Gandhinagar, India
Keywords
Identifier
https://doi.org/10.3126/njdvl.v23i1.69921