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Naxos syndrome

Medical condition

Medical condition

FieldValue
nameNaxos disease
synonymsDiffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy
imageNaxos disease.jpg
captionCutaneous phenotype of Naxos disease: woolly hair (A), palmar (B) and plantar (C) keratoses.

notoc 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. Nikos Protonotarios) is a cutaneous condition characterized by a palmoplantar keratoderma. The prevalence of the syndrome is up to 1 in every 1000 people in the Greek islands.

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

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
  • Kinked hair

References

References

  1. Rapini, Ronald P.. (2007). "Dermatology: 2-Volume Set". Mosby.
  2. (2006). "Naxos disease: Cardiocutaneous syndrome due to cell adhesion defect". Orphanet Journal of Rare Diseases.
  3. (June 2000). "Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)". Lancet.
  4. (April 17, 2018). "Keratoderma with woolly hair".
  5. "Naxos disease - About the Disease - Genetic and Rare Diseases Information Center".
  6. "Naxos disease {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

genodermatoses palmoplantar-keratodermas syndromes
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