Naxos disease is an autosomal recessive genodermatosis characterized by palmoplantar keratoderma, woolly hair and cardiomyopathy. In this report we describe an early case of Naxos disease and we briefly review the literature of this disorder.

References

1 Coonar AS, Protonotarios N, Tsatsopoulou A et al. Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21. Circulation 1998; 97: 2049–2059.
10.1161/01.CIR.97.20.2049
CAS PubMed Web of Science® Google Scholar
2 Norgett E, Hatsell S, Carvajal-Huerta L et al. Recessive mutation in desmoplakin disrupts desmoplakin–intermediate filament interaction and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 2000; 9: 2761–2766.
10.1093/hmg/9.18.2761
CAS PubMed Web of Science® Google Scholar
3 Protonotarios N, Tsatsapoulou A, Fontaine G. Naxos disease: keratoderma, scalp modification and cardiomyopathy. J Am Acad Dermatol 2001; 44: 309–310.
10.1067/mjd.2001.110648
CAS PubMed Web of Science® Google Scholar
4 Crosti C, Sala F, Bertani E et al. Leuconychie totale et dysplasie ectdermique observation de deux cas. Ann Dermatol Venereol 1983; 110: 617–622.
PubMed Web of Science® Google Scholar
5 McKoy G, Ptotonotarios N, Crosby A et al. Identification of a deletion in plakoglobin in arrythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 2000; 355: 2119–2124.
10.1016/S0140-6736(00)02379-5
CAS PubMed Web of Science® Google Scholar
6 Protonotarios N, Tsatsopoulou A, Anastasaki A et al. Genotype–phenotype assessment in autosomal recessive arrythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. J Am Coll Cardiol 2001; 38: 1477–1484.
10.1016/S0735-1097(01)01568-6
CAS PubMed Web of Science® Google Scholar
7 Duran M, Avellan F, Carvajal L. Dilated cardiomyopathy in the ectodermal dysplasia. Electro-echocardiographic observations in palmo-plantar keratoderma with woolly hair. Rev Esp Cardiol 2000; 53: 1296–1300.
CAS PubMed Web of Science® Google Scholar
8 Carvajal-Huerta L. Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol 1998; 39: 418–421.
10.1016/S0190-9622(98)70317-2
CAS PubMed Web of Science® Google Scholar
9 Tosti A, Misciali C, Piraccini BM et al. Woolly hair, palmoplantar keratoderma and cardiac abnormalities: report of a family. Arch Dermatol 1994; 130: 522–524.
10.1001/archderm.130.4.522
CAS PubMed Web of Science® Google Scholar
10 Rao BH, Reddy IS, Chandra KS. Familial occurrence of a rare combination of dilated cardiomyopathy with palmoplantar keratoderma and curly hair. Indian Heart J 1996; 48: 161–162.
CAS PubMed Google Scholar
11 Protonotarios N, Tsatsopoulou A, Patsourakos P et al. Cardiac abnormalities in familial palmoplantar keratosis. Br Heart J 1986; 56: 321–326.
10.1136/hrt.56.4.321
CAS PubMed Web of Science® Google Scholar
12 Barker JNWN, Protonotarios N, Tsatsopulou A, MacDonald DM. Palmoplantar keratoderma, curly hair and endomyocardial fibrodysplasia: a new syndrome. Br J Dermatol 1988; 119 (Suppl. 33): 13–40.
10.1111/j.1365-2133.1988.tb05334.x
Google Scholar

Citing Literature

Volume18, Issue5

September 2004

Pages 614-616

Naxos disease in Saudi Arabia

Abstract

References

Citing Literature

References

Information

About Wiley Online Library

Help & Support

Opportunities

Connect with Wiley

Naxos disease in Saudi Arabia

Abstract

References

Citing Literature

References

Related

Information