Naxos syndrome, also called Naxos disease, is a cutaneous condition characterized by palmoplantar keratoderma, a thickening of the skin of the palms and soles. Its full descriptive names refer to woolly hair and to cardiomyopathy, the heart muscle disease that accompanies the skin findings. The syndrome takes its name from the Greek island of Naxos, where it was first described by Nikos Protonotarios, and its prevalence on the Greek islands is up to about one in every thousand people. It has been associated with mutations in the genes encoding the proteins desmoplakin, plakoglobin, desmocollin-2 and SRC-interacting protein. Its skin appearance is the same as that of Carvajal syndrome.
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1. Naxos syndrome (Wikipedia)
Lead, paragraph 1
is a cutaneous condition characterized by a palmoplantar keratoderma
Lead, paragraph 2
It has been associated with mutations in the genes encoding the proteins desmoplakin, plakoglobin, desmocollin-2, and SRC-interacting protein
Lead
Naxos syndrome or Naxos disease (also known as "diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy" or "diffuse palmoplantar keratoderma with woolly hair and arrhythmogenic right ventricular cardiomyopathy", first described on the island of Naxos by Dr.
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