外胚层发育不良-皮肤脆性综合征:PKP1基因新突变位点的发现

Ectodermal Dysplasia-Skin Fragility Syndrome:New PKP1 Gene Mutations and Literature Review

目的报道中国外胚层发育不良-皮肤脆性综合征1例及PKP1基因新突变位点。方法收集患儿临床资料,并对其进行组织病理、免疫荧光及基因测序检查。结果患儿皮损表现为头发、眉毛及睫毛稀疏、细软,唇部皲裂,耳后、腹部、腋窝、肘窝、手腕、脚踝等皮肤皱褶、摩擦部位可见红斑、糜烂,指(趾)甲增厚变色。皮肤活检示:表皮细胞间隙增宽、裂隙。免疫荧光示表皮PKP1蛋白减少。在PKP1基因中发现了两处突变:c.95-96insAC及c.1492G>T。结论该患儿诊断为外胚层发育不良-皮肤脆性综合征,是一种罕见的常染色体隐性遗传性疾病,并在其PKP1基因中发现两处新突变位点,这两处新突变位点的发现扩展了外胚层发育不良-皮肤脆性综合征的基因突变谱。

Objective To report a case of ectodermal dysplasia-skin fragility syndrome with novel plakophilin1(PKP1)gene mutations in China.Methods The clinical data of our patient was collected and relevant laboratory tests were performed including histopathology,immunofluorescence and gene sequencing.Results The skin lesions of the child were characterized by thinning and softness of hair,eyebrows and eyelashes,chapped lips,skin wrinkles behind the ears,abdomen,armpits,elbows,wrists and ankles,skin erythema,erosion,and thickened and discolored nails.Skin biopsy showed widening of gaps in the epidermal cells and fissures.Immunofluorescence showed a reduction in intercellular staining for the desmosome component plakophilin 1.Mutation analysis revealed two homozygous mutations:c.95-96 ins AC and c.1492 G>T.Conclusion The patient was diagnosed as ectodermal dysplasia-skin fragility syndrome,which is a rare autosomal recessive inherited disease.Two new mutations in gene PKP1 were found,which expand the gene mutation spectrum of PKP1.