Naxos disease
Description
Naxos disease: a recessively inherited condition with arrhythmogenic right ventricular dysplasia/
cardiomyopathy (ARVD/C) non-epidermolytic palmoplantar keratoderma, and woolly hair
Naxos disease (OMIM 601214) combines palmoplantar keratoderma (PPK) and other ectodermal features characterised by woolly hair with cardiac disorders suggesting arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C).
It has a prevalence of 1 in 1000 in Naxos, the largest of the Greek Cyclades islands, where up to 5% of the population are heterozygote carriers.
History of Naxos disease
1986 – Nikos Protonotarios et al examined the population of the Greek island of Naxos
Because recurrent ventricular tachycardia developed in two young patients with palmoplantar keratosis from the Greek island of Naxos we sought evidence of cardiac abnormalities in families on this island that included members with this dermatosis.
Naxos disease: Normal electrocardiogram (a) and two episodes of ventricular tachycardia (b and c) from a single-channel recorder. In (a) there was a QRS axis of >135 ms, QRS prolongation, low voltage, and T-wave inversion in the precordial leads. In both (b) and (c) the ventricular tachycardia rate is 160 beats per minute and the QRS axes were >75ms and >135ms, respectively. Protonotarios et al 1986
1998 – Carvajal-Huerta A new cardiocutaneous syndrome has been noted, characterized by an epidermolytic palmoplantar keratoderma and woolly hair, and associated with dilated cardiomyopathy.
Associated Persons
- Nikos Protonotarios
- Adalena Tsatsopoulou
References
Historical references
- Protonotarios N, Tsatsopoulou A et al. Cardiac abnormalities in familial palmoplantar keratosis. Br Heart J. 1986 Oct;56(4):321-6.
- Protonotarios N, Tsatsopoulou A. Naxos disease: cardiocutaneous syndrome due to cell adhesion defect. Orphanet J Rare Dis. 2006 Mar 13;1:4.
Eponymous term review
- Carvajal-Huerta L. Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol. 1998 Sep;39(3):418-21.
- Coonar AS, Protonotarios N, Tsatsopoulou A, Needham EW, Houlston RS, Cliff S, Otter MI, Murday VA, Mattu RK, McKenna WJ. Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21. Circulation. 1998 May 26;97(20):2049-58.
- Protonotarios N, Tsatsopoulou A, Anastasakis A, Sevdalis E, McKoy G, Stratos K, Gatzoulis K, Tentolouris K, Spiliopoulou C, Panagiotakos D, McKenna W, Toutouzas P. Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. J Am Coll Cardiol. 2001 Nov 1;38(5):1477-84.
- Lüderitz B. Naxos disease. J Interv Card Electrophysiol. 2003 Dec;9(3):405-6.
- Li GL, Saguner AM, Fontaine GH. Naxos disease: from the origin to today. Orphanet J Rare Dis. 2018 May 10;13(1):74
- Leopoulou M, Mattsson G, LeQuang JA, Pergolizzi JV, Varrassi G, Wallhagen M, Magnusson P. Naxos disease – a narrative review. Expert Rev Cardiovasc Ther. 2020 Nov;18(11):801-808.
- Yesudian R, Yesudian P, Yesudian P. Naxos Disease: The Model for Scientific Discovery. Int J Trichology. 2020 Sep-Oct;12(5):245-246.
- Protonotarios I, Asimaki A, Xylouri Z, Protonotarios A, Tsatsopoulou A. Clinical and Molecular Aspects of Naxos Disease. Heart Fail Clin. 2022 Jan;18(1):89-99.
eponymictionary
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