表现为先天性红皮病的Netherton综合征2例报道

发布时间：2018-11-05 21:07

【摘要】：【目的】报道2例罕见的表现为先天性红皮病的Netherton综合征。【方法】分析Netherton综合征患者的临床特征、治疗、预后,扫描电镜观察患者的毛发超微结构,SPINK5基因检测患者的突变位点。【结果】临床均表现为新生儿期弥漫性红斑伴脱屑,经扫描电镜观察到竹节状发,SPINK5基因检测发现c.2423 CT(p.Thr808Ile)纯合错义突变。弟(先证者)给予静脉用免疫球蛋白(IVIG),口服扑尔敏,局部外用喜辽妥、莫匹罗星软膏、糠酸莫米松乳膏,同时每日全身外用沐浴油和保湿剂等治疗,2周后红斑明显消退、鳞屑减少。姐因出生后未予母乳喂养引起营养不足等原因导致生长迟缓。【结论】临床上表现为先天性红皮病或湿疹样皮炎的患儿要考虑Netherton综合征的可能,扫描电镜找到竹节状发和SPINK5基因检测发现病理性突变即可确诊,皮损治疗方面以保湿、抗炎、防治感染为主,病情严重者可选择IVIG,早期给予营养支持可能避免生长迟缓。
[Abstract]:[objective] to report two rare cases of Netherton syndrome with congenital erythroderma. [methods] to analyze the clinical features, treatment, prognosis and ultrastructure of hair in patients with Netherton syndrome. [results] the clinical manifestations of SPINK5 gene were diffuse erythema with desquamation in neonates, and bamboo-shaped hair was observed by scanning electron microscope. The homozygous missense mutation of c. 2423 CT (p.Thr808Ile) was found by SPINK5 gene detection. Younger brother (proband) was given intravenously immunoglobulin (IVIG), oral chlorpheniramine, local application of Xiyaotuo, momethasone furoate ointment, daily external body bath oil and moisturizing agent, etc. After 2 weeks, erythema subsided and scales decreased. The growth retardation caused by lack of nutrition after birth. [conclusion] Children with congenital erythroderma or eczematoid dermatitis should consider the possibility of Netherton syndrome. Scanning electron microscope found bamboo-shaped hair and SPINK5 gene detection found pathological mutation can be diagnosed, skin damage treatment with moisturizing, anti-inflammatory, prevention and treatment of infection, severe patients can choose early IVIG, nutritional support may avoid growth retardation.
【作者单位】：中山大学附属第一医院皮肤科;
【分类号】：R758.6

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