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