Naxos disease in Saudi Arabia

Journal of the European Academy of Dermatology and Venereology

Volumn 18, Issue 5, 2004, Pages 614-616

  Bukhari, I ^a   Juma'a, N ^b  

^a IMAM ABDULRAHMAN BIN FAISAL UNIVERSITY   (Saudi Arabia)

^b Armed Forces Hosp of King Abdulaziz   (Saudi Arabia)

Author keywords

Genodermatosis; Keratoderma; Naxos disease; Woolly hair

Indexed keywords

RETINOID;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARDIOMYOPATHY; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; ECHOCARDIOGRAPHY; FEMALE; FOLLOW UP; GENODERMATOSIS; HEART RIGHT VENTRICLE DYSPLASIA; HUMAN; KERATOSIS PALMOPLANTARIS; MEDICAL DECISION MAKING; MEDICAL LITERATURE; PRESCHOOL CHILD; PRIORITY JOURNAL; SAUDI ARABIA;

CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAIR DISEASES; HUMANS; KERATODERMA, PALMOPLANTAR; SAUDI ARABIA;

EID: 4544365856     PISSN: 09269959     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1468-3083.2004.01010.x     Document Type: Article

References (12)

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.
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.
3. Protonotarios N, Tsatsapoulou A, Fontaine G. Naxos disease: keratoderma, scalp modification and cardiomyopathy. J Am Acad Dermatol 2001; 44: 309-310.
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.
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.
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.
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.
8. Carvajal-Huerta L. Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol 1998; 39: 418-421.
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. 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.
11. Protonotarios N, Tsatsopoulou A, Patsourakos P et al. Cardiac abnormalities in familial palmoplantar keratosis. Br Heart J 1986; 56: 321-326.
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.