Histopathological and genetical diagnosis of one case of neonatal ectodermal dysplasia/skin fragility syndrome
10.3760/cma.j.cn501120-20190329-00148
- VernacularTitle: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
- Author:
Qiongfang RUAN
1
;
Chen XIA
;
Weiguo XIE
Author Information
1. 武汉大学同仁医院暨武汉市第三医院烧伤研究所 430060
- Keywords:
Infant, newborn;
Diagnosis;
Ectodermal dysplasia/skin fragility syndrome;
Plakophilin 1
- From:
Chinese Journal of Burns
2020;36(6):500-502
- CountryChina
- Language:Chinese
-
Abstract:
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.
