Naxos disease [Supplementary Concept]

A hereditary autosomal recessive disorder that combines palmoplantar keratoderma and other ectodermal features with cardiac disorders suggesting arrhythmogenic right ventricular dysplasia/cardiomyopathy (OMIM: 107970). It was first reported in families on the Greek island of Naxos. Mutations in the JUP gene have been identified. OMIM: 601214

Date introduced: August 25, 2010

MeSH Unique ID: C538346

Heading Mapped to:

• Hair Diseases
• Keratoderma, Palmoplantar
• Arrhythmogenic Right Ventricular Dysplasia

Entry Terms:

• Mal de Naxos
• Keratosis palmoplantaris with arrhythmogenic cardiomyopathy
• Woolly hair, palmoplantar keratoderma, and cardiac abnormalities
• Palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair