Naxos disease

Definition:

Naxos disease is characterized by cardiomyopathy, palmoplantar keratoderma, and woolly hair. Cardiac manifestation in patients with Naxos disease is arrhythmogenic right ventricular cardiomyopathy that appears by adolescence.

References:

[1]. G McKoy, et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet. 2000 Jun 17;355(9221):2119-24. [Content Brief]

[2]. L Carvajal-Huerta, et al. Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol. 1998 Sep;39(3):418-21. [Content Brief]

[3]. Nikos Protonotarios, et al. Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Pathol. 2004 Jul-Aug;13(4):185-94. [Content Brief]

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