發(fā)布時(shí)間：2018-01-03 10:33

  本文關(guān)鍵詞：可變性紅斑角化癥1家系　出處：《中國皮膚性病學(xué)雜志》2015年01期 　論文類型：期刊論文

  更多相關(guān)文章： 可變性紅斑角化癥 家系 突變

【摘要】：可變性紅斑角化癥是以可變性紅斑和皮膚角化過度為主要特征的罕見遺傳性皮膚病。目前的研究認(rèn)為突變基因主要是GJB3和GJB4。本患者女,22歲,四肢紅斑、脫屑18年。皮膚科情況:四肢伸側(cè)及雙足背可見大片紅色對(duì)稱性角化性斑片,以雙下肢為重,邊緣清晰,形狀不規(guī)則。皮損組織病理示:表皮角化過度,顆粒層及棘層增厚,真皮淺層有淋巴細(xì)胞浸潤。診斷:可變性紅斑角化癥。家族中可追溯到有5人有相類似癥狀。針對(duì)目前熱點(diǎn)突變基因GJB3和GJB4進(jìn)行直接測序,未發(fā)現(xiàn)突變。
[Abstract]:Degenerative erythematosis is a rare hereditary dermatosis characterized by erythema erythema and hyperkeratosis of the skin. Current studies suggest that the mutated genes are mainly GJB3 and GJB4.The patient was 22 years old. Erythema of extremities, 18 years of desquamation. Dermatology: large areas of red symmetrical keratosis can be seen on the extensor side of limbs and the back of both feet, with the lower limbs as the weight and the edges clear. Irregular shape. Histopathology of the lesions showed that the keratosis of the epidermis was excessive and the granular layer and spinous layer were thickened. Dermis superficial lymphocytic infiltration. Diagnosis: degenerative erythematokeratosis. The family can be traced back to 5 people with similar symptoms. The current hot mutation genes GJB3 and GJB4 were directly sequenced. No mutation was found.
【作者單位】： 西安交通大學(xué)醫(yī)學(xué)院第二附屬醫(yī)院皮膚科;西北婦女兒童醫(yī)院皮膚科;
【基金】：教育部新世紀(jì)人才支持計(jì)劃(NCET-010-0673)
【分類號(hào)】：R758.5
【正文快照】： 可變性紅斑角化癥是以地圖狀可變性紅斑和局限或廣泛的皮膚角化過度為主要特征的罕見遺傳性皮膚病[1]。大約1個(gè)世紀(jì)前由荷蘭皮膚科醫(yī)生首次對(duì)其形態(tài)特征進(jìn)行描述并命名為可變性紅斑角化癥[2]。目前國內(nèi)、外對(duì)此病研究的突變基因主要是GJB3和GJB4[3]。筆者對(duì)一有家族史可變性紅

【參考文獻(xiàn)】

相關(guān)期刊論文 前2條

1 張曉嵐;陳洋;李久宏;李波;姜奕;;一特殊的可變性紅斑角化癥家系的研究[J];中國醫(yī)科大學(xué)學(xué)報(bào);2011年02期

2 瓦慶彪;路永紅;陳前明;李p，

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