Results 131 to 140 of about 1,208,680 (158)

Biventricular involvement in a Turkish boy with palmoplantar hyperkeratosis and curly hair, an unusual presentation of Naxos–Carvajal syndrome

International Journal of Cardiology, 2007
Naxos disease is an autosomal recessively inherited familial syndrome characterized by woolly hair, palmoplantar keratoderma and a cell adhesion cardiomyopathy, especially arrhythmogenic right ventricular dysplasia (ARVD). Carvajal syndrome is a variant of Naxos disease in which curly or woolly hair, biventricular--predominantly left ventricular ...
Y Anik
exaly   +3 more sources

Naxos disease and Carvajal syndrome

Cardiovascular Pathology, 2004
Nikos Protonotarios
exaly   +2 more sources

Novel desmoplakin mutations in a child with Carvajal syndrome

Chinese Journal of Dermatology, 2020
exaly   +2 more sources

Variant Carvajal syndrome with additional dental anomalies

International Journal of Paediatric Dentistry, 2012
International Journal of Paediatric Dentistry 2012; 22: 390–396 Background  This paper aims to review the case of a girl who presented with a number of dental anomalies, in addition to unusual skin, nail and hair conditions. Tragically an undiagnosed cardiomyopathy caused unexpected sudden death.
Sophy, Barber, Peter, Day, Mary, Judge, Edell O', Toole, Stephen, Fayle   +4 more
openaire   +2 more sources

Hair and skin predict cardiomyopathies: Carvajal and erythrokeratodermia cardiomyopathy syndromes

Pediatric Dermatology, 2020
AbstractCarvajal and erythrokeratodermia cardiomyopathy syndromes (EKC) are rare, inherited cardiocutaneous disorders with potentially fatal consequences in young children. Some patients display features of congestive heart failure and rapidly deteriorate; others exhibit no evident warning signs until sudden death reveals underlying heart disease.
Qisi Sun, Lara Wine Lee, E Kevin Hall, Keith A. Choate, Robert W. Elder   +4 more
openaire   +2 more sources

Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome

Pediatric Dermatology, 2015
AbstractBackgroundMutations in various desmosomal proteins were shown to cause inherited forms of cardiomyopathy. Carvajal syndrome (Online Mendelian Inheritance in Man [OMIM] 605676) is characterized by the association of dilated cardiomyopathy, striate palmoplantar keratoderma, and woolly hair.
Vered, Molho-Pessach, Sivan, Sheffer, Rula, Siam, Spiro, Tams, Ihab, Siam, Rula, Awwad, Sofia, Babay, Julius, Golender, Natalia, Simanovsky, Yuval, Ramot, Abraham, Zlotogorski   +10 more
openaire   +2 more sources

Noncompaction and dilated cardiomyopathy in carvajal syndrome

Cardiology in the Young
Abstract Introduction: Carvajal syndrome, a rare autosomal recessive disorder caused by mutations in the DSP gene, is characterised by woolly hair, palmoplantar keratoderma, and left ventricular dilated cardiomyopathy.
Demet Tosun, Nihal Akçay, İlyas Bingöl, Damla Gökçeer Akbulut   +3 more
openaire   +2 more sources

A case of Carvajal syndrome presenting with dilated cardiomyopathy

Cardiology in the Young
AbstractObjectives:Carvajal syndrome is a very rare autosomal recessive cardiocutaneous disorder caused by a desmosomal mutation in exon 24 of the desmoplakin gene. It manifests with woolly hair, epidermolytic palmoplantar keratoderma, and arrhythmogenic right ventricular cardiomyopathy.
Sule Arıcı, Figen Akalın, Bilgen Bilge Geckinli   +2 more
openaire   +2 more sources

A New Hypo/Oligodontia Syndrome

Journal of Dental Research, 2010
Dental agenesis is either syndromic or non-syndromic. Here, we describe a familial case with Carvajal/Naxos syndrome associating woolly hair, palmoplantar keratoderma, and biventricular dilated cardiomyopathy. In addition to these signs, all three affected family members had hypo/oligodontia ranging from absence of the lower left second molar to 15 ...
L, Chalabreysse, F, Senni, P, Bruyère, B, Aime, C, Ollagnier, A, Bozio, P, Bouvagnet   +6 more
openaire   +2 more sources

Novel desmoplakin mutations in familial Carvajal syndrome.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2019
Desmoplakin is encoded by DSP gene, whose altered function leads to skin and hair abnormalities, and heart diseases. The whole triad of these traits characterizes the Carvajal syndrome (CS). CS is an autosomal recessive genetic disorder, mapping on chromosome 6q24 and caused by mutations in DSP gene.
Danat, Yermakovich, Larysa, Sivitskaya, Tatiyana, Vaikhanskaya, Nina, Danilenko, Iryna, Motuk   +4 more
openaire   +1 more source