Naxos syndrome
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| Naxos disease | |
|---|---|
Cutaneous phenotype of Naxos disease: woolly hair (A), palmar (B) and plantar (C) keratoses.
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| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| OMIM | 601214 |
| Patient UK | Naxos syndrome |
Naxos disease (also known as "Diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy,"[1] "Diffuse palmoplantar keratoderma with woolly hair and arrhythmogenic right ventricular cardiomyopathy firstly described in Naxos island by Dr Nikos Protonotarios,"[1] and "Naxos disease"[1]) is a cutaneous condition characterized by a palmoplantar keratoderma.[1] The prevalence of the syndrome is about 1 person in 1000 in the Hellenic islands.
It has been associated with mutations in the genes encoding desmoplakin and plakoglobin.[2]
See also
- Olmsted syndrome
- List of cutaneous conditions
- List of conditions caused by problems with junctional proteins
References
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