Naxos disease
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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.