Research articles
Recent India-relevant research summaries for doctors Check the original source and local guidance before use.
The heart-skin connection: Carvajal syndrome in a child with a novel DSP gene variant-a case report and literature review.
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Case report and literature review on Carvajal syndrome, a rare cardio-cutaneous disorder marked by woolly hair, palmoplantar keratoderma, and dilated cardiomyopathy. The condition is linked to DSP gene mutations affecting desmoplakin, a desmosomal protein essential for cell adhesion; dysfunction compromises myocardial and epidermal integrity and can progress to life‑threatening heart failure. Authors report a 7‑year‑old from Delhi with decompensated heart failure and characteristic skin/hair findings; genetic testing showed a homozygous DSP mutation with a novel variant, confirming the diagnosis. The report highlights that dermatologic signs may serve as early indicators of significant cardiac disease. As a single case, findings are descriptive; broader generalizability and variant pathogenicity require further study.
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Create free account Already registered? Sign inThe heart-skin connection: Carvajal syndrome in a child with a novel DSP gene variant-a case report and literature review.
Source date not listed
Case report and literature review on Carvajal syndrome, a rare cardio-cutaneous disorder marked by woolly hair, palmoplantar keratoderma, and dilated cardiomyopathy. The condition is linked to DSP gene mutations affecting desmoplakin, a desmosomal protein essential for cell adhesion; dysfunction compromises myocardial and epidermal integrity and can progress to life‑threatening heart failure. Authors report a 7‑year‑old from Delhi with decompensated heart failure and characteristic skin/hair findings; genetic testing showed a homozygous DSP mutation with a novel variant, confirming the diagnosis. The report highlights that dermatologic signs may serve as early indicators of significant cardiac disease. As a single case, findings are descriptive; broader generalizability and variant pathogenicity require further study.
About this update
Based on PubMed (India-relevant) and saved with the original source record.
View official sourceThese AI summaries are a quick starting point. Check the original source, local guidance and your own clinical judgement before using them.