Novel homozygous deletion of the plakophilin-1 gene in a Chinese patient with ectodermal dysplasia-skin fragility syndrome

摘要

Ectodermal dysplasia-skin fragility (EDSF) syndrome is a rare autosomal recessive disease characterized by skin fragility, chronic cheilitis, palmoplantar keratoderma, abnormal hair growth and nail dystrophy. EDSF syndrome is caused by mutations in the PKP1 gene encoding plakophilin-1, which result in desmosomal abnormality and poor intercellular cohesion between epidermal cells. Herein, we report a novel homozygous deletion of the PKP1 gene in a Chinese boy with EDSF syndrome. Our study expands the database on PKP1 mutations and emphasizes the key role played by PKP1 in the structure and function of the epidermal desmosomes. In addition, we describe the ultrastructural changes of the curly hair in patients with EDSF syndrome for the first time.