A Case of ITGA3 Mutation-Induced Junctional Epidermolysis Bullosa without Pulmonary or Renal Involvement

Abstract

Junctional epidermolysis bullosa (JEB) is a subtype of epidermolysis bullosa characterized by the formation of blisters within the basement membrane, particularly in the lamina lucida. Clinical manifestations of JEB include fragile skin with blisters and erosion. This case report presents a 35-year-old male with JEB caused by ITGA3 mutations (p.Arg875Ter, p.Cysl62Tyr) without pulmonary or renal complications. The patient exhibited various cutaneous signs such as persistent exfoliative patches, nail hypoplasia, and diffuse alopecia, with additional ophthalmic complications such as symblepharon and limbal stem cell deficiency. ITGA3 mutations are typically linked to interstitial lung disease and nephrotic syndrome, a characteristic group of symptoms known as ILNEB ('Interstitial Lung disease, Nephrotic syndrome and Epidermolysis Bullosa'). However, the patient showed no evidence of renal or pulmonary involvement, with normal urinalysis and chest X-ray results, making the diagnosis more difficult until next generation sequencing confirmed the ITGA3 mutation. © 2025 Korean Dermatological Association. All rights reserved.