遗传性皮肤病

随着人类基因组计划的成功完成和分子遗传学的迅速发展，遗传性皮肤病的研究已经取得长足的进展。

With the accomplishment of HGP and rapid development of molecular genetics , much more progress has been made in the study of genodermatoses .

遗传性皮肤病和非综合征型神经性耳聋（nonsyndromichearingimpairment，NSHI）是两大类比较重要的常染色体显性遗传病。

Inherited skin disease and nonsyndromic hearing impairment are two important autosomal dominant diseases .

研究背景：家族性慢性良性天疱疮，又称Hailey-Hailey病（HHD，OMIM169600）是一种罕见的常染色体显性遗传性皮肤病。

Background Familial benign chronic pemphigus or Hailey-Hailey disease ( HHD ; OMIM 169600 ) is a rare autosomal dominant cutaneous disorder characterized by recurrent vesicles and erosions mainly in intertriginous areas .

现在我终于学会解释自己的病了：这是一种罕见的遗传性皮肤病，叫隐性遗传营养不良型大疱性表皮松解症。

I have finally learned how to say , that I have a rare orphan genetic skin disorder named recessive dystrophic epidermolysis bullosa .

局灶性真皮发育不全综合征是一种罕见的遗传性皮肤病，其特征是进行性皮肤缺失，引起真皮发育不全，出现线状皮损，真皮层可见脂肪组织。

Focal dermal hypoplasia is a rare genodermatosis characterized by developmental defects of the skin , resulting in widespread linear lesions of dermal hypoplasia with adipose tissue in the dermis .

现代医学已证明雄激素性脱发是由雄激素依赖的多基因遗传性皮肤病，并与遗传、内分泌、免疫、精神等方面关系密切。

Modern medical science has already proved the androgen alopecia is the many genes heredity skin disease relied on by the androgen , and such respects as the heredity , endocrine , immunity , spirit , etc.

目的研究乙曲替酸口服治疗儿童重度遗传角化性皮肤病的临床疗效、不良反应及对儿童生长发育的影响，评估乙曲替酸在儿童患者中应用的临床疗效及安全性。

Objective To study the acitretin as the treatment for children cases with severe inherited disorders of keratinization . Clinical data of efficacy and tolerability of acitretin therapy were available for all patients and defines guidelines for treatment .

研究背景遗传性对称性色素异常症（Dyschromatosissymmetricahereditaria，DSH），又称Dohi肢端色素沉着，是一种少见的常染色体显性遗传性皮肤病。

Background Dyschromatosis symmetrica hereditaria ( DSH ), also called reticulate acropigmentation of Dohi , is a rare autosomal dominant pigmentary genodermatosis .