毛发上皮瘤

Results 86 cases were of pilomatrixoma （71.1%）,11 cases of trichoepithelioma （9.1%）,1 case was of desmoplastic trichoepithelioma,2 cases of trichoblastoma,5 cases of dilaled pore and pilar sheath acanthoma、1 case was of follicular toumor,3 cases of trichofolliculoma,3 cases of proliferating folliculas cyst and proliferating tricholemmoma,6 cases of tricholemmoma of pilar sheath adrentitial.

结果 毛母质瘤86例（71.1%）、毛发上皮瘤11例（9.1%）、促结缔组织增生性毛发上皮瘤1例、毛母细胞瘤2例、圆锥漏斗状棘皮瘤与毛鞘棘皮瘤5例、毛囊漏斗肿瘤1例、毛发滤泡瘤与毛发滤泡癌3例、增生性毛囊囊肿与增生性外毛根鞘瘤3例、毛鞘瘤与毛鞘癌6例。

Multiple familial trichoepithelioma is a benign skin tumor related to the pilosebaceous apparatus and inherited in autosomal dominant manner. Attentions have been focused on the mapping and mutation of the disease gene. But the clinical features of MFT are not clearly analyzed in Chinese.

多发性家族性毛发上皮瘤是一种皮肤附属器的良性肿瘤，是常染色体显性遗传性疾病，目前的研究集中在其致病基因的定位及突变上，但对该病的临床分析不够透彻。

Objective To study clinical and genetic features of multiple familial Trichoepithelioma in Chinese.

摘 要：目的了解国人多发性家族性毛发上皮瘤的临床表现和遗传特点。

Objective:To discuss the clinicopathologic features of trichoepithelioma .

目的：探讨毛发上皮瘤临床及病理改变特点。

Part I :Multiple familial trichoepithelioma: Analyses of Clinical and Genetic Features Objective To study the clinical and genetic features of multiple familial trichoepithelioma in Chinese.

第一部分：多发性家族性毛发上皮瘤的遗传特征分析目的了解中国人多发性家族性毛发上皮瘤的临床表现和遗传特点。

CYLD1 gene ; multiple family trichoepithelioma ; mutation ; genetic heterogeneity

CYLD1基因；家族性毛发上皮瘤；突变；遗传异质性

Objective: To identify mutations in exon 16,18 of the gene CYLD1 in a Chinese family with multiple familial trichoepithelioma in Shandong Province.

目的：收集山东一多发性家族性毛发上皮瘤家系，通过直接测序法检测该家系圆柱瘤病肿瘤抑制基因(cylindromatosis tumor-suppressor gene，CYLD1)第16、18号外显子是否存在突变。

Researches in genodermatoses has rapidly advanced in China in recent ten years. The causative genes involved in multiple familial trichoepithelioma and primary erythermalgia have been found. Two indepen- dent genome-wide scans with DNA markers have been performed to detect genetic linkage related to psoriasis and vitilig...

近几年来我国皮肤遗传病研究也取得了飞速发展，如发现家族性多发性毛发上皮瘤和原发性红斑肢痛症的致病基因，成功进行了汉族人群银屑病和白癜风易感基因的定位，为搜寻其易感基因奠定了坚实基础。

Multiple family trichoepithelioma is a genetically heterogeneous disorder.

未发现本家族性毛发上皮瘤家系CYLD1基因第16、18号外显子存在突变，提示家族性毛发上皮瘤具有遗传异质性。

Multiple familial trichoepithelioma is inherited in autosomal dominant manner with high penetrance. The involvement of MFT in woman is more than that in man. Multiple lesions commonly present small tumors located predominantly in the nalolabial folds symmetrically. Most of the tumors are dome-shaped, skin-colored, firm

总之，毛发上皮瘤是一种高度外显的常染色体显性遗传病，女性发病多于男性，以沿鼻唇沟对称分布的乳白色半球形或圆锥形丘疹为皮损特征，无恶化趋势，组织病理为角质囊肿与肿瘤岛，同一家系中不同的患者表现度不同

I didn't watch TV last night, because it .

昨晚我没有看电视，因为电视机坏了。

Since this year, in a lot of villages of Beijing, TV of elevator liquid crystal was removed.

今年以来，在北京的很多小区里，电梯液晶电视被撤了下来。