Naxos disease

Overview
Naxos disease is an autosomal recessive variant of ARVD, described initially on the Greek island of Naxos. There, the penetrance is >90%.

It involves the gene that codes for plakoglobin (a protein that is involved in cellular adhesion), on chromosome 17p.

Naxos disease is described as a triad of ARVD, palmoplantar keratosis, and wooly hair.

The signs of Naxos disease are more severe than with autosomal dominant ARVD.