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Pediatric Cardiology
Published in: Pediatric Cardiology 4/2005

01-08-2005

Woolly Hair and Palmoplantar Hyperkeratosis May Present with Hypertrophic Cardiomyopathy

Authors: A. Peirone, E. Bruno, N. Rossi, L.E. Alday

Published in: Pediatric Cardiology | Issue 4/2005

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Abstract

Woolly hair and palmoplantar hyperkeratosis is an infrequent autosomal recessive ectodermal disorder that may be associated with arrhythmogenic right ventricular dysplasia (Naxos disease) or dilated cardiomyopathy. We report the sporadic occurrence of the aforementioned skin-hair anomalies in a patient with physical findings compatible with Noonan’s syndrome and hypertrophic cardiomyopathy-an association heretofore not described.
Literature
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Alday, L, Moreyra, E 1984Secondary hypertrophic cardiomypathy in infancy and childhoodAm Heart J1089961000PubMedCrossRef
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Allanson, J 2002The first Noonan syndrome gene: PTPN11, which encodes the protein tyrosine phosphatase SHPPediatr Res52471PubMedCrossRef
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Caravajal-Huerta, L 1998Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathyJ Am Acad Dermatol39418421
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Norgett, E, Hatsell, S, Caravajal-Huerta, L,  et al. 2000Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratodermaHum Mol Genet927612166PubMedCrossRef
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Metadata
Title
Woolly Hair and Palmoplantar Hyperkeratosis May Present with Hypertrophic Cardiomyopathy
Authors
A. Peirone
E. Bruno
N. Rossi
L.E. Alday
Publication date
01-08-2005
Publisher
Springer-Verlag
Published in
Pediatric Cardiology / Issue 4/2005
Print ISSN: 0172-0643
Electronic ISSN: 1432-1971
DOI
https://doi.org/10.1007/s00246-004-0779-1

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