Naxos disease, also known as keratoderma with woolly hair type 1, is a rare genetically inherited syndrome characterized by the triad of arrhythmogenic right ventricular dysplasia / cardiomyopathy (ARVD/C), woolly hair, and diffuse nonepidermolytic palmoplantar keratoderma (PPK).

Naxos disease is caused by a mutation of the JUP gene on chromosome 17. This gene encodes for the plakoglobin protein and is inherited in an autosomal recessive manner. Plakoglobin is a component of desmosomes and adherens junctions; abnormal protein will lead to abnormal myocardial gap junction remodeling, abnormal mechanical cardiac contraction, increased hair follicle proliferation, and hyperkeratosis induced by mechanical pressure.

The disease has a frequency of 1:1000 in the population of the Greek islands. Sporadic cases have also been identified in Israel, Saudi Arabia, Turkey, Bangladesh, and Canada. Consanguinity is the most significant risk factor for the development of disease.

Woolly hair presents as tightly coiled, unusually frizzy, difficult-to-comb hair diffusely on the scalp that is apparent at birth. Palmoplantar hyperkeratosis begins in the first year of life. The keratoderma is usually diffuse and nontransgrediens, but striate keratoderma is occasionally seen. Patients may begin to experience palpitations or syncope in adolescence. Severe complications, including fatal ventricular tachyarrhythmias, heart failure, and sudden cardiac death may occur.