Carvajal Syndrome : A New Case with Additional Dermatological Features
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Abstract
Carvajal syndrome is a rare hereditary disease, stemming from a recessive mutation in the desmoplakin gene, crucial for cell adhesion. Its hallmark features include woolly hair, palmoplantar keratoderma, and dilated cardiomyopathy, primarily affecting the left ventricle of the heart 1.We report the case of an 18-month-old infant early diagnosed with Carvajal syndrome revealed by dermatological symptoms and confirmed by genetic testing.
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References
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