一例外胚层发育不良/皮肤脆性综合征新生儿的组织病理学及基因诊断

Histopathological and genetical diagnosis of one case of neonatal ectodermal dysplasia/skin fragility syndrome

2015年8月6日,武汉大学同仁医院暨武汉市第三医院烧伤科收治1例出生6 h的外胚层发育不良/皮肤脆性综合征男性患儿。取患儿前躯破溃处皮肤组织,采用苏木精-伊红染色观察皮肤组织病理学改变,结果显示患儿表皮肌细胞层轻度松解,表皮下方有大疱,真皮乳头层消失,真皮层内少量炎性细胞浸润;采用免疫组织化学染色检测患儿皮肤组织中斑菲素蛋白1(PKP1)的表达情况,结果显示PKP1表达完全缺失;靶向测序鉴定PKP1基因突变位点显示,在PKP1基因上有1个内含子纯合突变PKP1:c.203-1G>A。患儿经过35 d的治疗,全身大部分创面已经愈合,可见多处散在残余创面,不断有新的水疱及皮肤破损出现。

On August 6,2015,a male infant with ectodermal dysplasia/skin fragility syndrome at 6 hours of birth was admitted to the Burn Department of Tongren Hospital of Wuhan University&Wuhan Third Hospital.The ulcerous skin tissue in thoracic area was harvested.The histopathological change of wound tissue was observed with hematoxylin-eosin staining.The result showed that the epidermal muscle cell layer was slightly released,there were bullae under the epidermis,the dermal papilla layer disappeared,and a small amount of inflammatory cells infiltrated in the dermis.The expression of plakophilin 1(PKP1)in wound tissue was observed with immunohistochemical staining.The result showed that the PKP1 expression was completely absent.The PKP1 gene mutation site was identified by target sequencing.The result showed that the PKP1 gene had a homozygous mutation at intron(PKP1:c.203-1G>A).Most of the wounds of the pediatric patient healed after 35 days of treatment,with many scattered residual wounds visible,and new blisters and skin lesions continue to appear.