Naxos syndrome

Naxos syndrome or Naxos disease^[1] (also known as "diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy"^[1] or "diffuse palmoplantar keratoderma with woolly hair and arrhythmogenic right ventricular cardiomyopathy", first described on the island of Naxos by Dr. Nikos Protonotarios^[1]) is a cutaneous condition characterized by a palmoplantar keratoderma.^[1] The prevalence of the syndrome is up to 1 in every 1000 people in the Greek islands.^[2]

Naxos disease
Other names	Diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy
Cutaneous phenotype of Naxos disease: woolly hair (A), palmar (B) and plantar (C) keratoses.

It has been associated with mutations in the genes encoding the proteins desmoplakin, plakoglobin, desmocollin-2, and SRC-interacting protein (SIP).^[3][4] Naxos disease has the same cutaneous phenotype as the Carvajal syndrome.^[2]

Symptoms

Between 80 and 99% of those with Naxos disease will display some of the following symptoms:

• Disease of the heart muscle
• Thickening of palms and soles
• Sudden increased heart rate
• Dizzy spells^[5]
• Kinked hair^[6]

See also

• Olmsted syndrome
• List of cutaneous conditions
• List of conditions caused by problems with junctional proteins