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Key takeaways
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The most common form of epidermolysis bullosa (EB), a rare genetic disorder characterized by skin fragility, is epidermolysis bullosa simplex (EBS).
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Researchers recently identified a rare genetic mutation of the KLHL24 gene that can cause EBS. Patients with this mutation present differently at birth, making early diagnosis difficult.
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It is important for clinicians to recognize early signs of KLHL24-associated EBS because this condition puts individuals at risk of developing early dilated cardiomyopathy (DCM), which can be life-threatening.
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Prompt diagnosis is essential because it allows clinicians to initiate cardiac screening early, identify heart conditions at a young age and manage them effectively.
Research study background
While the genetic skin condition epidermolysis bullosa simplex (EBS) has an estimated prevalence of 1 in 30,000-50,000 people, KLHL24-associated EBS is an extremely rare subtype of EBS with only 30 cases reported in literature. Because KLHL24-associated EBS results from mutations that disrupt keratin filament stability, patients can present with both skin and heart involvement. It’s important for providers to recognize the signs of this condition and confirm a diagnosis early, so the patient’s heart can be monitored closely.
While there are no prenatal ultrasound findings that can reliably identify this condition, there are signs at birth, such as skin absence, blistering and erosions. In addition to the typical blistering and wounds of EB, this specific form of EBS shows a pattern of scarring at birth presumed to be a result of in utero wounding of the skin. Patients often develop atrophic scars, often with a starlike pattern and follicular atrophoderma (depressed scarring around the hair follicles, similar in appearance to the skin of an orange).
In this study, pediatric dermatologists Sofia Guelfand Warnken, MD, and Anna Bruckner, MD, along with pediatric cardiologist Kathryn Chatfield, MD, describe a newborn who had unusual skin findings at birth to raise awareness of how KLHL24-associated EBS presents at birth since it varies from the typical blistering of EB. This patient underwent genetic testing, which confirmed the rare form of EBS, allowing the care team to start cardiology monitoring early in life.
Relevance to practice
It is important to obtain genetic confirmation when KLHL24-associated EBS is suspected to establish the diagnosis and guide the prevention and management of associated complications. Managing cardiac disease, specifically dilated cardiomyopathy, includes medical therapy for heart failure symptoms and close cardiac surveillance. However, in patients with progressive or severe disease, cardiac transplantation may ultimately be required. The team recommends a referral to a cardiologist experienced in inherited cardiomyopathies for screening studies and ongoing monitoring with electrocardiograms and echocardiography. Biomarkers of cardiac dysfunction, such as NT-proBNP levels, may also play a role in surveillance and early detection of disease progression.
Featured researchers
Sofia Guelfand Warnken, MD
Dermatologist
Dermatology
Children's Hospital Colorado
Assistant professor
Dermatology
University of Colorado School of Medicine
Anna Bruckner, MD, MSCS
Section Head, Pediatric Dermatology
Director, Pediatric Dermatology Fellowship
Children’s Hospital Colorado
Professor of Dermatology and Pediatrics
University of Colorado School of Medicine
Kathryn Chatfield, MD
Director, Cardiac Genetics Clinic
The Heart Institute
Children's Hospital Colorado
Associate professor
Pediatrics-Cardiology
University of Colorado School of Medicine
