无汗性外胚叶发育不全遗传类型及临床特点分析

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

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。 ③ X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。

Objective To analyze genetic types and clinical features with anhi drotic 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. Results① All patients were males in fam iliesⅠ ,Ⅱ ,Ⅳ andⅤ . The females in these families were recessive carriers. T herefore, 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, Types Ⅰ andⅡ were divided according to clinical manifestations of the families. The patients in familiesⅠ andⅣ 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 tha n those of general population. However, the patients in familiesⅡ andⅤ belonge d 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, patien ts 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 T here are variations in hereditary types and clinical manifestations of patients with EDA.