Ectodermal Dysplasia/Skin Fragility Syndrome:The First Case Report in China
- VernacularTitle:外胚层发育不良/皮肤脆性综合征我国首例报道
- Author:
Rui ZHENG
;
Xuejun ZHU
- Publication Type:Journal Article
- Keywords:
Ectodermal dysplasia;
Syndrome;
Skin fragility;
Plakophilin 1
- From:
Chinese Journal of Dermatology
2003;0(11):-
- CountryChina
- Language:Chinese
-
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.
