Epidermolytic hyperkeratosis, also know as congenital bullous ichthysoiform erythroderma, is a rare autosomal dominant condition affecting 1 in 2-300,000 people worldwide. Patients often present with blistering and hyperkeratosis as a result of missense mutations in KRT1 or KRT10 that encode for keratins 1 and 10 respectively .
Management of epidermolytic hyperkeratosis is predominantly symptomatic and aims at reducing the burden of hyperkeratosis itself . These management options are largely dermatological, aiming to reduce epidermal hyperproliferation and corneocyte function. Evidence of surgical intervention is limited, despite a lack of consensus in the literature of definitive management.
This case study reports on 31-year-old female with epidermolytic hyperkeratosis who is affected by significant hyperkeratosis to bilateral hands with loss of function from flexion contractures. It also defines a novel surgical technique based on debridement of abnormal tissue alongside existing medical treatments in order to improve function and as symptomatic relief.