【摘要】：遺傳性對(duì)稱性色素異常癥是一種以對(duì)稱性散布于雙手背、足背雀斑樣色素沉著斑及色素減退斑為主要表現(xiàn)的常染色體顯性遺傳病。本次報(bào)道3個(gè)家系,家系1中三代均有患病;家系二出現(xiàn)隔代遺傳,先證者伴有面部雀斑樣色素沉著斑;家系三為單發(fā)病例,家族中其他人員未患本病。3名先證者在共聚焦激光掃描顯微鏡下觀察到白斑區(qū)基底層色素不同程度減少及色素環(huán)不完整或缺失,色素沉著斑處基底層色素增加,家系2和家系3先證者皮膚鏡下部分皮疹可見網(wǎng)狀及片狀色素結(jié)構(gòu)。
[Abstract]:Hereditary symmetrical pigmentation disorder is an autosomal dominant genetic disease characterized by symmetrically scattered on the back of both hands, freckle-like pigmentation spot and pigmentation spot on the back of the foot. In this paper, three families were reported, all of them were sick in the third generation of family 1, and the second family had intergenerational inheritance, and the probands were accompanied by facial freckle pigmentation. The third family was a single case, and the rest of the family did not suffer from the disease. Three probands observed the decrease of pigment and incomplete or missing pigment ring in the basal layer of leukoplakia under confocal laser scanning microscope. The basal pigment increased at the pigmentation spot, and the reticular and flake pigment structures were found in some of the probands of pedigree 2 and pedigree 3 under dermatoscopy.
【作者單位】： 天津中醫(yī)藥大學(xué);天津市中醫(yī)藥研究院附屬醫(yī)院;天津醫(yī)科大學(xué)研究生院;
【分類號(hào)】：R758.5
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本文編號(hào)：2483536