中华皮肤科杂志 ›› 2001, Vol. 34 ›› Issue (2): 116-118.

• 论著 • 上一篇    下一篇

无汗性外胚叶发育不全遗传类型及临床特点分析

王福喜, 张学军, 杨森, 张学奇, 张安平, 朱一元   

  1. 安徽医科大学第一附属医院皮肤科 合肥 230022
  • 收稿日期:2000-03-13 出版日期:2001-04-15 发布日期:2001-04-15
  • 基金资助:
    国家教育部骨干教师基金资助

Analysis of Hereditary Types and Clinical Features with Anhidrotic Ectodermal Dy splasia

WANG Fuxi, ZHANG Xuejun, YANG Sen   

  1. Department of Dermatology, Fir st Affiliated Hospital of Anhui Medical University, Hefei 230022, China
  • Received:2000-03-13 Online:2001-04-15 Published:2001-04-15

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摘要： 目的 分析无汗性外胚叶发育不全的遗传类型和临床特点。方法 采用临床检查和家系调查的方法,对5个无汗性外胚叶发育不全家系共计35例患者进行遗传类型和临床表现分析。结果 ①家系Ⅰ、Ⅱ、Ⅳ和Ⅴ中所有患者全部为男性,女性只是隐性携带者,属X连锁隐性遗传男子型;家系Ⅲ中的患者既有男性,又有女性,男女发病比例接近1:1,属常染色体显性遗传。②在X连锁隐性遗传家系中,首次按照各家系的表现不同,又分为X连锁隐性遗传Ⅰ型(眼睛型)和Ⅱ型(牙齿型),其中家系Ⅰ和家系Ⅳ属X连锁隐性遗传Ⅰ型,除表现为汗腺、毛囊缺陷外,还有先天视力低下,智力低于正常人;家系Ⅱ和家系Ⅴ属X连锁隐性遗传Ⅱ型,除表现为汗腺、毛囊缺陷外,还有先天缺牙或牙齿发育不全,智力与同龄正常人相同,这也是中国汉族人无汗性外胚叶发育不全患者与国外的不同之处。在常染色体显性遗传家系中,家系Ⅲ的患者均表现为无汗毛或汗毛稀少,身体部分无汗,无其它特殊体征。③X连锁隐性遗传患者的组织病理表现为毛囊、汗腺等皮肤附属器先天性缺失,而常染色体显性遗传患者的组织病理表现为汗腺发育不良,少于正常人,而毛囊先天性缺失。结论 无汗性外胚叶发育不全的遗传类型和临床表现具有多样性。

关键词: 外胚层发育不良, 遗传性疾病

Abstract: Objective To analyze genetic types and clinical features with anhidrotic ectodermal dysplasia (EDA). Methods The genetic types and clinical manife stations of 35 patients with EDA in five families were analyzed by genealogical investigation and clinical examination. Results ① All patients were males in familiesⅠ,Ⅱ,Ⅳ andⅤ. The females in these families were recessive carriers. Therefore, the genetic types were X.linked EDA. There were 8 males and 6 female s in familyⅢ. The proportion of males to females approximated to 1:1, indica ting autosomal dominant inheritant EDA.② In families with X.linked EDA, TypesⅠ andⅡ were divided according to clinical manifestations of the families. The patients in familiesⅠ and Ⅳ belonged to typeⅠ, with the characteristics of sp ecial appearances, such as defects in the development of hair and sweat glands, hypophrenia and bad sights. Intelligence and physical development were lower than those of general population. However, the patients in familiesⅡ and Ⅴ belonged to typeⅡ. It was characterized by sparse hair, hypohidrosis and inborn teeth less or teeth dysplasia. Intelligence and physical development were the same as general population. In the family with autosomal dominant inheritant EDA, patients manifested hypohidrosis only, and had no other characteristics.③ Histopathol ogy showed defects in the development of hair follicles and sweat glands in pati ents with X.linked EDA, but dysplasia of sweat glands and congenital defect of hair follicles in patients with autosomal dominant inheritant EDA. Conclusion There are variations in hereditary types and clinical manifestations of patients with EDA.

Key words: Ectodermal dysplasia, Hereditary diseases