汗孔角化症

骨髓移植后发生Mibelli汗孔角化症

Porokeratosis of Mibelli following bone marrow transplantation

15例汗孔角化症回顾分析

A Retrospective Study of 15 Patients with Porokeratosis of Mibelli

我们研究了播散性浅表光化性汗孔角化症（DSAP）和寻常型鱼鳞病（IV）。

We studied disseminated superficial actinic porokeratosis ( DSAP ) and ichthyosis vulgaris ( IV ) .

播散性浅表性光线性汗孔角化症（Disseminatedsuperficialactinicporokeratosis，DSAP）是一种少见的慢性角化性皮肤病，呈常染色体显性遗传。

Disseminated superficial actinic porokeratosis ( DSAP ) is an uncommon autosomal dominant chronic keratinization disorder .

结论发现了与家系4高度连锁的3个SNPs，排除了60个候选基因是汗孔角化症致病基因的可能性。

Conclusion 60 candidate genes were excluded . 3 SNPs were detected linking to the disease in this family .

播散性浅表性光化性汗孔角化症并发鳞状细胞癌1例

A Case of Disseminated Superficial Actinic Porokeratosis combined with Squamous Cell Carcinoma

掌跖及泛发性汗孔角化症一家系报道

The first pedigree report of porokeratosis plantaris , palmaris , et disseminata in China

浅表播散型汗孔角化症致病基因的定位克隆

Disease Gene Positional Cloning of Disseminated Superficial Porokeratosis

阴囊汗孔角化症误诊为湿疹1例

A Cases of Scrotum Porokeratosis Misdiagnosed as Eczema

疣状增生性汗孔角化症1例

A case of porokeratosis with verruciform hyperplasia

显著角化过度型汗孔角化症1例

Obvious hyperkeratosis porokeratosis : a case report

结果汗孔角化症病因不明确。

Results The etiology is uncertain .

同时排除了这一区域中60个候选基因是汗孔角化症致病基因的可能性，为以后汗孔角化症致病基因的研究节省了大量的人力物力。

And 60 candidate genes were excluded that will give an insight into the pathogenesis of DSP .

结论遗传、环境和免疫因素可能在汗孔角化症发病中起重要作用；

Conclusions Genetic , environmental and immunizing factors play significant roles in the invasion of porokeratosis of Mibelli .

其它因素如器官移植、免疫抑制剂治疗、阳光照射、外伤、感染因素等能诱发汗孔角化症。

Such as transplantation , immunosuppressive therapy , sunlight exposure , trauma and infective agents , it can induce porokeratosis .

对一个弥漫性浅表性光敏性汗孔角化症家系致病基因的定位和对迟发型2型糖尿病易感基因的研究

Mapping the Disease Gene in a Disseminated Superficial Actinic Porokeratosis Family and Study Susceptibility Genes of Late-onset Type 2 Diabetes Mellitus

弥漫性浅表性光敏性汗孔角化症致病基因定位与候选基因突变检测急性白血病并发弥漫性血管内凝血的临床分析

Linkage and Mutation Analysis of Gene ( s ) Associated with Disseminated Superficial Actinic Porokeratosis ; Clinical Signifcance with DIC in Acute Leukemia

粗短手并无拇指，眼部异常：包括虹膜发育不良、汗孔角化症和白内障，环状胰腺，十二指肠狭窄；

Short and stubby hands and absent thumbs , eye abnormalities including iris dysgenesis , porokeratosis and cataracts , annular pancreas , duodenal stenosis .

研究背景汗孔角化症是一组常染色体显性遗传皮肤病，它以表皮明显角化、鸡眼样层板结构为其组织病理特征。

Background Porokeratosis is a group of disorders characterized by epidermal keratinization associated with a cornoid lamella , which is an autosomal dominant mode of inheritance .

该病基因定位在12q23.2～24.1。结论：湖南家系汗孔角化症遗传方式为常染色体显性遗传病。

The gene of that disease is located at 12q23 ~ 24.1 . Conclusions : The hereditary pattern of the actinic porokeratosis of " Hunan family " is autosomal dominant disease .

播散性浅表性汗孔角化症常在10-30岁之间发病，皮损初发部位为手臂、颈和面部。

The age of onset was usually in the teens or first three decades of life in disseminated superficial porokeratosis . The arms , neck , trunk and face were commonly involved .

目的对已定位的浅表播撒型汗孔角化症致病区段的候选基因进行大规模突变筛查及突变分析，以识别该病的致病基因，进一步阐明汗孔角化症的发病机制。

Objective Using the located locus for DSP , we perform a cosmical mutation screening and the mutation analysis for candidate genes in order to find the disease gene causing DSP , and then clarify the pathogenesis of PK more clearly .