不伴竹节发的不典型迟发Netherton综合征一例

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

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.2423C>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。

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.2423C>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.