Naxos disease: a rare occurrence of cardiomyopathy with woolly hair and palmoplantar keratoderma.
Indian J Dermatol Venereol Leprol
;
2008 Jan-Feb; 74(1): 50-2
Artículo
en Inglés
| IMSEAR
| ID: sea-52288
ABSTRACT
Naxos disease is a rare genodermatosis with woolly hair, keratoderma of palms and soles and cardiomyopathy. A seven-year-old boy presented with woolly hair and hyperkeratotic lesions on the palms and soles since birth. His cardiac status was evaluated and echocardiography revealed early cardiomyopathy. Scalp biopsy revealed hair shaft in an angulated outline suggestive of woolly hair. So the diagnosis of Naxos disease was made. Since he was asymptomatic no treatment was offered but a regular follow-up of the patient and treatment of emergent symptoms should prevent sudden death.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Humanos
/
Masculino
/
Niño
/
Queratodermia Palmoplantar
/
Displasia Ventricular Derecha Arritmogénica
/
Penetrancia
/
Genes Recesivos
/
Enfermedades del Cabello
/
Cardiomiopatías
Idioma:
Inglés
Revista:
Indian J Dermatol Venereol Leprol
Año:
2008
Tipo del documento:
Artículo
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