Article
Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities.
The Journal of investigative dermatology - 1 Apr 2010
Mahoney My G, Sadowski Sara, Brennan Donna, Pikander Pekka, Saukko Pekka, Wahl James, Aho Heikki, Heikinheimo Kristiina, Bruckner-Tuderman Leena, Fertala Andrzej, Peltonen Juha, Uitto Jouni, Peltonen Sirkku
Abstract excerpt
Desmoplakin (DP) anchors the intermediate filament cytoskeleton to the desmosomal cadherins and thereby confers structural stability to tissues. In this study, we present a patient with extensive mucocutaneous blisters, epidermolytic palmoplantar keratoderma, nail dystrophy, enamel dysplasia, and sparse woolly hair. The patient died at the age of 14 years from undiagnosed cardiomyopathy. The skin showed...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.