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

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 cardiomyopat...

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Bibliographic Details
Published in:Indian journal of dermatology, venereology, and leprology venereology, and leprology, 2008-01, Vol.74 (1), p.50-52
Main Authors: Rai, R, Ramachandran, B, Sundaram, V.S, Rajendren, G, Srinivas, C.R
Format: Article
Language:English
Subjects:
Arrhythmogenic Right Ventricular Dysplasia - genetics
Arrhythmogenic Right Ventricular Dysplasia - pathology
Biological and medical sciences
Cardiology. Vascular system
Cardiomyopathies - genetics
Cardiomyopathies - pathology
Cardiomyopathy
Cardiomyopathy, Palmoplantar keratoderma, Woolly hair
Case studies
Child
Dermatology
Diagnosis
Dyskeratosis
Echocardiography
General aspects
Genes, Recessive
Hair Diseases - genetics
Hair Diseases - pathology
Health aspects
Heart
Heart diseases
Humans
Keratoderma, Palmoplantar - genetics
Keratoderma, Palmoplantar - pathology
Male
Medical sciences
Myocarditis. Cardiomyopathies
Penetrance
Prevention
Risk factors
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Description
Summary: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.
ISSN:0378-6323
0973-3922
1998-3611
DOI:10.4103/0378-6323.38410