Abstract: Objective To report the first case of ectodermal dysplasia/skin fragility syndrome in China.Methods The clinical data,transmission electron microscopic examination and immunohistochemical analysis of this patient were evaluated.Results The patient was a 3-year-old girl who presented increased skin fragility with trauma-induced,blisters and erosions,combined with short and sparse hair,finger-and toe-nail dystrophy and palmoplantar keratoderma.Transmission electron microscopy showed a loss of keratinocyte-keratinocyte adhesion,widening of intercellular spaces and a reduced number of hypoplastic desmosomes.Immunohistochemical analysis revealed a complete absence of staining for plakophilin 1.Conclusion Ectodermal dysplasia/skin fragility syndrome is a rare autosomal recessive inherited disease characterized by clinical manifestations as well as electron microscopic features and immunohistochemical evidence.

Key words: Ectodermal dysplasia, Syndrome, Skin fragility, Plakophilin 1