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Keratitis, Ichthyosis, and Deafness Syndrome with Endocarditis and Myelitis: A Rare Case Report

Year: 2025

Type: article

Abstract: Introduction: Keratitis-ichthyosis-deafness (KID) syndrome (MIM#148210) is a rare autosomal dominant genodermatosis caused by monoallelic deleterious variants in the GJB2 gene (MIM*121011). The syndrome is characterized by congenital neurosensory deafness, keratitis, and palmoplantar keratoderma. Case Presentation: We report on a 32-year-old Caucasian male with KID syndrome who presented to the emergency department with high fever, severe headache, and chest pain exacerbated by coughing and deep breathing. His symptoms rapidly progressed to sepsis, and diagnostic evaluations confirmed endocarditis, complicated by parainfectious myelitis. Despite the severity of his condition, the patient achieved significant recovery, with minimal residual neurological deficits affecting the left leg. Conclusion: We attribute the sepsis to systemic dissemination of Staphylococcus aureus, probably facilitated by impaired skin barrier due to KID syndrome. This case highlights the importance of comprehensive interprofessional management in managing rare genodermatoses and their complications.

Source: Case Reports in Dermatology

DOI: 10.1159/000546019