中华皮肤科杂志 ›› 2021, Vol. 54 ›› Issue (8): 716-718.doi: 10.35541/cjd.20200149

• 研究报道 • 上一篇    下一篇

不伴竹节发的不典型迟发Netherton综合征一例

陈映丹1，2    黄惠3    罗帅寒天1    李亚萍1    施小六3    张桂英1   

  1. 1中南大学湘雅二医院皮肤科，长沙  410011；2深圳市龙华区人民医院皮肤科  518109；3中南大学湘雅二医院遗传科，长沙  410011

  • 收稿日期:2020-02-22 修回日期:2020-11-09 发布日期:2021-08-02
  • 通讯作者: 张桂英 E-mail:zhangguiying67@aliyun.com

A case of atypical late-onset Netherton syndrome without bamboo hair

Chen Yingdan1,2, Huang Hui3, Luo Shuaihantian1, Li Yaping1, Shi Xiaoliu3, Zhang Guiying1   

  1. 1Department of Dermatology, The Second Xiangya Hospital of Central South University, Changsha 410011, China; 2Department of Dermatology, The People′s Hospital of LongHua, Shenzhen 518109, China; 3Department of Heredity, The Second Xiangya Hospital of Central South University, Changsha 410011, China
  • Received:2020-02-22 Revised:2020-11-09 Published:2021-08-02
  • Contact: Zhang Guiying E-mail:zhangguiying67@aliyun.com

PDF

6

PDF (Mobile)

0

摘要： 【摘要】 患者女，24岁，因躯干、四肢反复起环状红斑、鳞屑伴瘙痒9年就诊。皮损组织病理：角化过度伴灶性角化不全，角层内中性粒细胞聚集，角层下水疱，真皮浅中层血管周围淋巴细胞伴少量嗜酸性粒细胞和中性粒细胞浸润。直接免疫荧光：IgG、IgM、IgA、C3均为阴性。全外显子测序SPINK5基因显示，第25号外显子发生c.2423 C＞T（p.T808I）错义变异，第31号外显子c.2965?1G＞A剪切位点变异，二者构成的复合杂合关系可能是患者罹患Netherton综合征的原因。结合临床表现及基因检测结果，诊断为Netherton综合征。

关键词: Netherton综合征, 皮肤表现, DNA突变分析, SPINK5基因, 竹节发

Abstract: 【Abstract】 A 24-year-old female patient presented with recurrent itchy annular erythema and scales on the trunk and extremities for 9 years. Histopathological study revealed hyperkeratosis with focal parakeratosis, neutrophil aggregation in the stratum corneum, blisters below the stratum corneum, and perivascular infiltration with lymphocytes, a small number of eosinophils and neutrophils in the superficial and middle dermis. Direct immunofluorescence assay showed negative staining for IgG, IgM, IgA and C3. Whole-exome sequencing of the SPINK5 gene showed a missense mutation c.2423 C>T （p.T808I） in exon 25, and a splicing site mutation c.2965-1G>A in exon 31. The compound heterozygosity for the two mutations may be the cause of Netherton syndrome in the patient. Based on the clinical manifestations and genetic testing results, the patient was diagnosed with Netherton syndrome.

Key words: Netherton syndrome, Skin manifestations, DNA mutational analysis, SPINK5 gene, lateonset

引用本文

陈映丹, 黄惠 罗帅寒天 李亚萍 施小六 张桂英. 不伴竹节发的不典型迟发Netherton综合征一例[J]. 中华皮肤科杂志, 2021,54(8):716-718. doi:10.35541/cjd.20200149

Chen Yingdan, Huang Hui, Luo Shuaihantian, Li Yaping, Shi Xiaoliu, Zhang Guiying. A case of atypical late-onset Netherton syndrome without bamboo hair[J]. Chinese Journal of Dermatology, 2021, 54(8): 716-718.doi:10.35541/cjd.20200149