Naxos disease: A rare occurrence of cardiomyopathy with woolly hair and palmoplantar keratoderma

Indian Journal of Dermatology, Venereology and Leprology

Volumn 74, Issue 1, 2008, Pages 50-52

  Rai, R ^a   Ramachandran, B ^a   Sundaram, V ^a   Rajendren, G ^a   Srinivas, C ^a  

^a PSG HOSPITALS   (India)

Author keywords

Cardiomyopathy; Palmoplantar keratoderma; Woolly hair

Indexed keywords

ARTICLE; CARDIOMYOPATHY; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; FOLLOW UP; FOOT SOLE; HAIR ANALYSIS; HAND PALM; HEART RIGHT VENTRICLE DYSPLASIA; HUMAN; HUMAN TISSUE; HYPERKERATOSIS; MALE; MICROSCOPY; PALMOPLANTAR KERATODERMA; SCALP; SCHOOL CHILD; SKIN BIOPSY; SKIN DEFECT; TWO DIMENSIONAL ECHOCARDIOGRAPHY;

EID: 38349016287     PISSN: 03786323     EISSN: None     Source Type: Journal    
DOI: 10.4103/0378-6323.38410     Document Type: Article

References (11)

1. Protonotarios N, Tsatsopoulou A, Patsourakos P, Alexopoulos D, Gezerlis P, Simitsis S, et al. Cardiac abnormalities in familial palmoplantar keratosis. Br Heart J 1986;56:321-6.
2. Carvajal-Huerta L. Epidermolytic palmoplantar keratoderma with wooly hair and dilated cardiomyopathy. J Am Acad Dermatol 1998;39:418-21.
3. Barker JN, Protonatorios N, Tsatopoulou A, MacDonald DM. Palmoplantar keratoderma, curly hair and endomyocardial fibrodysplasia: A new syndrome. Br J Derm 1988;119:13-4.
4. Tosti, A, Misciali C, Piraccini BA, Fanti PA, Barbareschi M, Ferretti RM. Woolly hair, palmoplantar keratoderma and cardiac abnormalities: Report of a family. Arch Dermatol 1994;130 522-4.
5. Bukhari I, Juma'a N. Naxos disease in Saudi Arabia. J Eur Acad Dermatol Venereol 2004;18:614-6.
6. Rao BH, Reddy IS, Chandra KS. Familial occurrence of a rare combination of dilated cardiomyopathy with palmo plantar keratoderma and curly hair. Indian Heart J 1996;48:161-2.
7. Adhisivam B, Mahadevan S. Naxos disease. Indian J Pediatr 2006;73:359-60.
8. Protonotarios N, Tsatsopoulou A, Anastasakis A, Sevdalis E, McKoy G, Stratos K, et al. Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. J Am Coll Cardiol 2001;38:1477-84.
9. McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 2000;355:2119-24.
10. Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Molec Genet 2000;9:2761-6.
11. Gatzoulis K, Protonotarios N, Anastasakis A, Tsatsopoulou A, Vlasseros J, Gialafos J, et al. Implantable defibrillator therapy in Naxos disease. Pacing Clin Electrophysiol 2000;23:1176-8.