Blume-Peytavi U, Gollnick H M, Föhles J, Kremer G, Pineda M S, Phan K H, Orfanos C E
Universitäts-Hautklinik und Poliklinik, Klinikum Steglitz, Freien Universität Berlin.
Hautarzt. 1994 Jun;45(6):378-84. doi: 10.1007/s001050050087.
We report on an 11-year-old female patient with anhidrotic ectodermal dysplasia (AED) showing the following characteristics: (1) reduced number of hair follicles and incomplete formation of sweat glands; (2) disturbed hair growth with shortening of anagen and anhidrosis; (3) disturbed cytokeratin expression pattern of CK 13, 14, 19 (follicular epithelium) and of CK 18 (eccrine sweat glands); (4) reduction of cystine and increase in sulphonic cysteine acid. Thus, we demonstrated pathological differentiation on the immunomorphological and on the biochemical level, leading to disturbed keratinization that could be visualized by transmission and scanning electron microscopical studies of the hair shafts. According to these findings AED is a developmental defect that involves not only incomplete formation of hair follicles and sweat glands but also a disordered differentiation and follicular keratinization with disturbed cytokeratin pattern and pathological amino acid composition of the terminal hairs produced.
我们报告了一名患有无汗性外胚层发育不良（AED）的11岁女性患者，其具有以下特征：（1）毛囊数量减少且汗腺形成不完全；（2）毛发生长紊乱，生长期缩短且无汗；（3）CK 13、14、19（毛囊上皮）和CK 18（小汗腺）的细胞角蛋白表达模式紊乱；（4）胱氨酸减少，磺酸半胱氨酸酸增加。因此，我们在免疫形态学和生化水平上证明了病理分化，导致角化紊乱，这可通过对毛干的透射和扫描电子显微镜研究观察到。根据这些发现，AED是一种发育缺陷，不仅涉及毛囊和汗腺形成不完全，还涉及分化紊乱和毛囊角化，伴有细胞角蛋白模式紊乱以及所产生终毛的病理氨基酸组成。
