|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 (also known as "diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy," "diffuse palmoplantar keratoderma with woolly hair and arrhythmogenic right ventricular cardiomyopathy, first described on the island of Naxos by Nikos Protonotarios," and "Naxos disease") 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). A variation of Naxos syndrome is known as Carvajal syndrome.
Symptoms and signs
Between 80 and 99% of those with Naxos disease will display some of the following symptoms:r
- Disease of the heart muscle
- Thickening of palms and soles
- Sudden increased heart rate
- Dizzy spells
- Kinked hai
- Dilated cardiomyopathy
- Detachment of nail
- Sparse body hair
The desmosomal proteins plakoglobin and desmoplakin take on mutations that cause Naxos disease. 
Increased mechanical stress leads to cell death, due to defects in linking sites of plakoglobin and desmoplakin which can interrupt series of cell adhesion
The treatment for this condition is based on the following:
- Automatic cardioverter defibrillator
- Antiarrhythmic drugs
- Heart transplantation
- Olmsted syndrome
- List of cutaneous conditions
- List of conditions caused by problems with junctional proteins
- ↑ 1.0 1.1 1.2 1.3 Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
- ↑ 2.0 2.1 Protonotarios, Nikos; Tsatsopoulou, Adalena (2006). "Naxos disease: Cardiocutaneous syndrome due to cell adhesion defect". Orphanet Journal of Rare Diseases. 1 (1): 4. doi:10.1186/1750-1172-1-4. PMC 1435994. PMID 16722579.
- ↑ McKoy G, Protonotarios N, Crosby A, et al. (June 2000). "Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)". Lancet. 355 (9221): 2119–24. doi:10.1016/S0140-6736(00)02379-5. PMID 10902626. S2CID 39821701.
- ↑ "Keratoderma with woolly hair". Genetics Home Reference. April 17, 2018. Archived from the original on April 18, 2018. Retrieved April 17, 2018.
- ↑ "Naxos disease | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 2021-03-18. Retrieved 2021-04-04.
- ↑ 6.0 6.1 6.2 RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Naxos disease". www.orpha.net. Archived from the original on 21 November 2017. Retrieved 22 August 2021.