The heart–skin connection: Carvajal syndrome in a child with a novel DSP gene variant—a case report and literature review

Abstract

Carvajal syndrome is a rare familial cardio-cutaneous disorder characterised by the triad of woolly hair, palmoplantar keratoderma, and dilated cardiomyopathy. It results from mutations in the DSP gene, (p 24) a desmosomal protein crucial for cell adhesion. Defective desmoplakin disrupts myocardial and epidermal integrity, leading to electrical and contractile dysfunction of the heart. The resulting cardiomyopathy progresses to life-threatening congestive heart failure. We describe a 7-year-old boy from Delhi, India, who presented with features of decompensated heart failure along with woolly hair and palmoplantar keratoderma. Genetic sequencing confirmed a homozygous DSP gene mutation with a novel variant, establishing the diagnosis of Carvajal syndrome. This case emphasises the importance of recognising dermatological manifestations as early warning signs of severe underlying cardiac disease.