Literature DB >> 15690239

Woolly hair and palmoplantar hyperkeratosis may present with hypertrophic cardiomyopathy.

A Peirone1, E Bruno, N Rossi, L E Alday.   

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.

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Year:  2005        PMID： 15690239     DOI： 10.1007/s00246-004-0779-1

Source DB:  PubMed          Journal:  Pediatr Cardiol        ISSN： 0172-0643            Impact factor:   1.655


  12 in total

1.  Familial occurrence of a rare combination of dilated cardiomyopathy with palmoplantar keratoderma and curly hair.

Authors:  B H Rao; I S Reddy; K S Chandra
Journal:  Indian Heart J       Date:  1996 Mar-Apr

2.  Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).

Authors:  G McKoy; N Protonotarios; A Crosby; A Tsatsopoulou; A Anastasakis; A Coonar; M Norman; C Baboonian; S Jeffery; W J McKenna
Journal:  Lancet       Date:  2000-06-17       Impact factor: 79.321

3.  Mapping a gene for Noonan syndrome to the long arm of chromosome 12.

Authors:  C R Jamieson; I van der Burgt; A F Brady; M van Reen; M M Elsawi; F Hol; S Jeffery; M A Patton; E Mariman
Journal:  Nat Genet       Date:  1994-12       Impact factor: 38.330

4.  Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy.

Authors:  L Carvajal-Huerta
Journal:  J Am Acad Dermatol       Date:  1998-09       Impact factor: 11.527

5.  PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

Authors:  Marco Tartaglia; Kamini Kalidas; Adam Shaw; Xiaoling Song; Dan L Musat; Ineke van der Burgt; Han G Brunner; Débora R Bertola; Andrew Crosby; Andra Ion; Raju S Kucherlapati; Steve Jeffery; Michael A Patton; Bruce D Gelb
Journal:  Am J Hum Genet       Date:  2002-05-01       Impact factor: 11.025

6.  Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.

Authors:  E E Norgett; S J Hatsell; L Carvajal-Huerta; J C Cabezas; J Common; P E Purkis; N Whittock; I M Leigh; H P Stevens; D P Kelsell
Journal:  Hum Mol Genet       Date:  2000-11-01       Impact factor: 6.150

7.  Secondary hypertrophic cardiomyopathy in infancy and childhood.

Authors:  L E Alday; E Moreyra
Journal:  Am Heart J       Date:  1984-10       Impact factor: 4.749

8.  Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21.

Authors:  A S Coonar; N Protonotarios; A Tsatsopoulou; E W Needham; R S Houlston; S Cliff; M I Otter; V A Murday; R K Mattu; W J McKenna
Journal:  Circulation       Date:  1998-05-26       Impact factor: 29.690

9.  The first Noonan syndrome gene: PTPN11, which encodes the protein tyrosine phosphatase SHP-2.

Authors:  Judith Allanson
Journal:  Pediatr Res       Date:  2002-10       Impact factor: 3.756

10.  Cardiac abnormalities in familial palmoplantar keratosis.

Authors:  N Protonotarios; A Tsatsopoulou; P Patsourakos; D Alexopoulos; P Gezerlis; S Simitsis; G Scampardonis
Journal:  Br Heart J       Date:  1986-10
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  2 in total

1.  Different clinical presentations of Naxos disease and Carvajal syndrome: Case series from a single tertiary center and review of the literature.

Authors:  Ali Baykan; Şeref Olgar; Mustafa Argun; Abdullah Özyurt; Özge Pamukçu; Kazım Üzüm; Nazmi Narin
Journal:  Anatol J Cardiol       Date:  2014-04-16       Impact factor: 1.596

2.  Living after sudden death: A case report of Naxos disease.

Authors:  Jose Alberto Garcia Noain; Amparo Cantin Golet; Jorge Navarro Calzada; Ascension Muñoz Mellado; Julian Mozota Duarte
Journal:  Indian J Crit Care Med       Date:  2012-10
  2 in total

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