Naxos syndrome
| 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 diseasearrhythmogenic 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
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
References
- ^ ISBN 978-1-4160-2999-1.
- ^ PMID 16722579.
- S2CID 39821701.
- ^ "Keratoderma with woolly hair". Genetics Home Reference. 17 April 2018. Retrieved 17 April 2018.
- ^ "Naxos disease - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 9 March 2023.
- ^ "Naxos disease | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 4 April 2021.