Adalena Tsatsopoulou

Are You Confident of the Diagnosis? What you should be alert for in the history Carajal syndrome, a variant of Naxos disease (Naxos arrhythmogenic cardiocutaneous syndrome), associates woolly hair and palmoplantar keratoderma with an extreme type of left dominant arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D), initially characterized as dilated cardiomyopathy. Presentation of cutaneous abnormalities is that…

Are You Confident of the Diagnosis? What to be alert for in the history Naxos disease associates arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) with woolly hair and palmoplantar keratoderma (naxos arrhythmogenic cardiocutaneous syndrome). It is a genetically determined desmosomal defect, usually with an autosomal recessive inheritance; however, dominant forms have also been reported. Woolly hair is…