表現(xiàn)為先天性紅皮病的Netherton綜合征2例報道
發(fā)布時間：2018-11-05 21:07
【摘要】：【目的】報道2例罕見的表現(xiàn)為先天性紅皮病的Netherton綜合征�！痉椒ā糠治鯪etherton綜合征患者的臨床特征、治療、預后,掃描電鏡觀察患者的毛發(fā)超微結構,SPINK5基因檢測患者的突變位點�！窘Y果】臨床均表現(xiàn)為新生兒期彌漫性紅斑伴脫屑,經掃描電鏡觀察到竹節(jié)狀發(fā),SPINK5基因檢測發(fā)現(xiàn)c.2423 CT(p.Thr808Ile)純合錯義突變。弟(先證者)給予靜脈用免疫球蛋白(IVIG),口服撲爾敏,局部外用喜遼妥、莫匹羅星軟膏、糠酸莫米松乳膏,同時每日全身外用沐浴油和保濕劑等治療,2周后紅斑明顯消退、鱗屑減少。姐因出生后未予母乳喂養(yǎng)引起營養(yǎng)不足等原因導致生長遲緩�！窘Y論】臨床上表現(xiàn)為先天性紅皮病或濕疹樣皮炎的患兒要考慮Netherton綜合征的可能,掃描電鏡找到竹節(jié)狀發(fā)和SPINK5基因檢測發(fā)現(xiàn)病理性突變即可確診,皮損治療方面以保濕、抗炎、防治感染為主,病情嚴重者可選擇IVIG,早期給予營養(yǎng)支持可能避免生長遲緩。
[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.
【作者單位】： 中山大學附屬第一醫(yī)院皮膚科;
【分類號】：R758.6
本文編號：2313463
[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.
【作者單位】： 中山大學附屬第一醫(yī)院皮膚科;
【分類號】：R758.6
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相關期刊論文 前2條
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相關期刊論文 前1條
1 袁肖海,王學民;Netherton綜合征1例[J];臨床皮膚科雜志;2004年03期
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