Syndromic Epidermolysis Bullosa Simplex Subtype Due to Mutations in the KLHL24 Gene: Series of Case Reports in Russian Families

This study examines a rare subtype of epidermolysis bullosa simplex (EBS) linked to mutations in the KLHL24 gene, involving seven patients from four Russian families. It identifies specific genetic variants, such as c.1A > G, c.3G > A, and a novel c.23del, which lead to symptoms like skin fragility, hypopigmentation, atrophic scars, follicular atrophoderma, nail dystrophy, and diffuse hair loss. The study underscores the role of genetic testing in diagnosing this EBS subtype and notes that symptom severity varies with the mutation. While some literature reports dilated cardiomyopathy in similar cases, no cardiac issues were found in these patients. The research also highlights that symptoms improve significantly after age 4, with adult patients not requiring treatment, stressing the importance of early diagnosis for better outcomes.