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人类无毛基因新的插入突变引起伴有丘疹损害的无毛症

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世界核心医学期刊文摘（皮肤病学分册） 2006年第10期2卷 40-41页

作者： Wali A. Ansar M. Khan M.N. Ahmad W. 任建文 Department of Biological Sciences Quaid-I-Azam UniversityIslamabadPakistan Dr.

*** atrichia with papular lesions is a rare,recessively inherited condition of total alopecia,characterized clinically by complete and irreversible hair loss,which begins shortly after birth with the development of the papular lesions of keratin-filled cysts over an extensive area of the *** in the human hairless(HR)gene have been implicated in the pathogenesis of this *** search fora mutation in human HR in a family with congenital *** analysis was carried out using genotyping markers closely linked to congenital atrichia locus on ***,human HR was sequenced toidentify a disease-causing ***.A novel 11 bpinsertion mutation,G202(InsCTTCCCCCAGG),in exon 2 ofthe hairless gene was identified in a Pakistani consanguineous family affected by congenital *** insertion resultsin the expansion of 11 bp tandem repeat,which introducesa translational frame shift leading to downstream premature termination *** mutation is the first insertion mutation identified in the coding sequence of human *** extends our knowledge of mutations in HR that define the pathogenic basis of this disease.

关键词：丘疹损害无毛症基因突变插入突变全秃连锁分析移码突变衔接重复出生后紧密连锁

检测无毛症伴丘疹损害的潜在人类无毛基因的频发突变

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世界核心医学期刊文摘（皮肤病学分册） 2005年第9期1卷 31-32页

作者： MasséM. Martinez-Mir A. Lam H. A.M. Christiano 刘艳 Department of Dermatology Columbia University New YorkNYUnited States

Identification of mutations in the hairless (HR) gene in patients with atrichia with papular lesions (APL) has proven of critical importance, as it provides a basis for the differentiation between APL and alopecia universalis. The establishment of the diagnostic criteria for APL has triggered the identification of a large number of APL patients among those suspected to suffer from alopecia universalis. This advancement has resulted in the discovery of an increasing number of hairless mutations in both consanguineous and nonconsanguineous APL families. Here, we report the identification of a homozygous mutation, 3434delC, in an APL patient of Arab-Palestinian descent. The proband is a 23-year-old female with generalized scalp and body alopecia. To confirm the diagnosis of APL and to identify the specific mutation, we sequenced the hairless gene. Sequencing of all exons of the hairless gene revealed a homozygous frameshift mutation, 3434delC, in exon 18. Interestingly, the same mutation was previously identified in an Arab-Israeli family. Our data suggest that the 3434delC mutation most likely represents a founder mutation in this geographical region.

关键词：丘疹损害无毛症基因突变普秃先证者杂合突变移码突变

先天性无毛症的甲襞微循环：附一家系四例报告

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微循环学杂志 1994年第3期4卷 51-51页

作者：汪琪王晓秋冯铁娟铁道部哈尔滨铁路分局医院

先天性无毛症的甲襞微循环：附一家系四例报告文／汪琪，王晓秋，冯铁娟先天性无毛症（Ａｔｒｉｃｈｏｓｉｓｃｏｎｇｅｎｉｔａｌｉｓ）临床罕见，笔者报告一家系四例及其甲襞微循环改变。１病例先证者（ＩＶ１）：男，１０岁。出生时... 详细信息

先天性无毛症的甲襞微循环：附一家系四例报告文／汪琪，王晓秋，冯铁娟先天性无毛症（Ａｔｒｉｃｈｏｓｉｓｃｏｎｇｅｎｉｔａｌｉｓ）临床罕见，笔者报告一家系四例及其甲襞微循环改变。１病例先证者（ＩＶ１）：男，１０岁。出生时头发、眉毛稀少而细软，此后逐渐脱落...

关键词：无毛症先天性家系甲襞微循环改变

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具有丘疹性损害的无毛症

国外医学.皮肤病学分册 1987年第4期13卷 247-247页

作者：张玉麟

本文报告一例11岁男孩患有寻常性可变性免疫缺乏病(Common Variable Immunodeficiency)并发丘疹损害性无毛症。这种罕见的外胚叶发育不良表现在生后3个月正常胎毛的脱落。特别有趣的是患儿父亲有同样疾病,也患同样免疫缺乏病。

关键词：无毛症丘疹性损害丘疹损害免疫缺乏外胚叶发育不良刺激试验角质囊肿低丙球蛋白血症 IgG

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冤枉当“石女”

健康博览 2006年第6期 46-47页

作者：蒂子

我的初潮来得晚，17岁才姗姗来迟，胸部日益隆起，让我欣喜又羞涩，可是，另一个特征却没出现，下身光溜溜酶，商书上说的，还有我去公共厕所时无意中看到的成年女性私密处都长满了黑黑的阴毛。因为这个问题，我变得沉默寡语，忧心忡忡。

关键词：无毛症

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面对心上人,我走不出性别特征的阴影

法制与社会 2006年第12期 44-45页

作者：静好

我的初潮来得晚,17岁高中毕业才姗姗来迟。我看过生理方面的书,知道初潮之后身体会出现一些性别特征,我发现自己胸部日益隆起,这让我既欣喜又羞涩。可是,另一个性别特征却没有在我身上出现,我的下面光溜溜的,而书上,还有我去公共厕所时... 详细信息

我的初潮来得晚,17岁高中毕业才姗姗来迟。我看过生理方面的书,知道初潮之后身体会出现一些性别特征,我发现自己胸部日益隆起,这让我既欣喜又羞涩。可是,另一个性别特征却没有在我身上出现,我的下面光溜溜的,而书上,还有我去公共厕所时无意中看到的成年女性那里都长满了黑黑的毛发。因为这个问题,我变得沉默寡语,忧心忡忡。妈妈也没法发现我的不正常,因为从8岁起我就自己给自己洗澡,而且不许妈妈进来。尽管我们母女关系很好,可我却不好意思开口对她说这样的事。

关键词：无毛症初潮阴毛性别特征

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体毛,多毛和少毛

开卷有益（求医问药） 2003年第6期 22-23页

作者：傅志宜天津医科大学总医院皮肤科

你注意过吗?不论男女,人是全身长毛的,只是有的部位毛长得很长,如头发、胡须等,大家很容易看到,而光滑皮肤上的毛长得很细很软不易看到,常被误认为没毛.假如你仔细看看,除了手掌、脚底之外,全身皮肤上都有毛.

关键词：多毛症无毛症后天性少毛症全身性

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天生无毛不要怕刻意剃毛无必要

家庭中医药 2006年第10期13卷 54-55页

作者：容小翔广西

有些人会发生阴毛缺如,谓之无毛症.患无毛症之妇女民间俗称'白虎',男性则称'青龙'.不管是'白虎'或'青龙',均被认为是不祥之兆,还说'患女克夫','患男克妻'.

关键词：天生剃毛生理作用无毛症阴毛白虎

脱发合并维生素D依赖型佝偻病ⅡA型及无毛基因突变:一种临床、组织学和免疫组织化学的对比研究

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世界核心医学期刊文摘（皮肤病学分册） 2005年第7期1卷 38-39页

作者： Bergman R. Schein-Goldshmid R. Hochberg Z. 罗素菊冯义国 Department of Dermatology Rambam Medical Center PO Box 9602 Haifa 31096 Israel Dr.

Objective: To establish the unique and common clinical and microscopic characteristics of the alopecias associated with vitamin D-dependent rickets (VDDR) type IIA and with hairless gene mutations. Design: A comparative clinical, histologic, and immunohistochemical study of the alopecias in 6 patients withVDDRIIA and 4 patientswith atrichia with papular lesions (APL) and/or alopecia universalis congenita (AUC) (hereinafter “ APL/AUC” ). Main Outcome Measures: Clinical data were gathered from medical records, personal interviews, and physical examinations. Histologic and immunohistochemical studies were performed on 6 scalp punch biopsy specimens from each of the 2 studied groups. Results: The alopecias in VDDR IIA and APL/AUC showed similar clinical, histologic, and immunohistochemical features. The clinical presentation of the VDDR alopecia resembled either the APL phenotype (ie, with papules and milia) or the AUC phenotype (without papules and milia). The main histologic findings included void infundibula; absence of the lower two thirds of the hair follicles, often replaced by vertically oriented irregular epithelial structures or epithelial cysts; irregular epithelial structures, often with small cysts in the middle and lower dermis; and small, medium, and large keratinizing cysts at all levels of the dermis. The larger epithelial cysts in the upper dermis stained positively for cytokeratin (CK) 10, which suggests an infundibular derivation, whereas the remaining irregular epithelial structures and cysts in themiddle and lower dermis stained positivelymost frequently forCK17, CK19, andCD34,which suggests an outer root sheath derivation. Conclusions: The alopecias associated with VDDR IIA and with hairless gene mutations show striking clinical and microscopic similarities. Disintegration of the lower two thirds of the hair follicles seems to be the underlying defect, and a common pathogenetic pathwaymight be involved.

关键词：基因突变依赖型免疫组织化学秃发上皮样囊肿细胞角蛋白病理遗传学活组织检查无毛症显微特征