Keratosis palmoplantaris with mutations in desmoplakinQ87.8
Synonym(s)
Carvajal syndrome; MIM 605676
DefinitionThis section has been translated automatically.
Very rare autosomal recessive inherited disorder characterized by woolly hair or frizzy hair (woolly hair), striated keratosis palmoplantaris and dilated cardiomyopathy of the left ventricle.
EtiopathogenesisThis section has been translated automatically.
Mutations in the DSP gene located on the 6th chromosome on the gene locus p24 have been detected. This gene codes for the cell adhesion protein Desmoplakin. Desmoplakin is an essential component of the desmosomes (see Naxos syndrome).
Clinical featuresThis section has been translated automatically.
Patients become clinically conspicuous during the first years of life due to a cardiomyopathy that often occurs suddenly and can be life-threatening. Cardiomyopathy is caused by a fibrous-fatty transformation of the left ventricle muscles and can lead to sudden cardiac death.
LiteratureThis section has been translated automatically.
- Take N et al (2012) Evidence forgenetic heterogeneity in Carvajal syndrome. Cell Tissue Res 348:261-264
- Rasmussen TB et al (2013) Protein expression studies of desmoplakine mutations in cardiomyopathy patients reveal different molecular disease mechanisms. Clin Genet 84: 20-30