PDF(Pubmed)
Abstract：
Ectodermal dysplasias are a heterogeneous group of disorders that are characterized by abnormal development of ectodermal structures like hair, teeth, nails, and sweat glands. Alhough they were earlier classified according to the structures affected and hence the clinical manifestations, recent developments inch towards a genetic basis for classification. They are currently divided into four groups of disorders based on the pathway involved, which includes the ectodysplasin/nuclear factor-kappa B (NFKB) pathway, wingless-type MMTV integration site family, member 10 ([wingless related integration site] WNT10), tumor protein p63 (TP63), and the structural group. In spite of attempts at the segregation of the various disorders, there is a great degree of overlap in clinical features among the conditions, which makes a thorough history-taking and clinical examination important in helping us arrive at a diagnosis and judge the various systems involved. A multidisciplinary approach forms the crux of the management of patients with ectodermal dysplasias and their families, with a focus on education, counseling, prosthesis, and an overall rehabilitative outlook. Special attention must also be paid to screening family members for varying severities of the disorders, and an attempt must be made at a genetic diagnosis with genetic counseling.
摘要：
外胚层发育不良是一组异质性的疾病，其特征是外胚层结构如头发的异常发育，牙齿,指甲,和汗腺。尽管它们是根据受影响的结构和临床表现早期分类的，最近的发展逐渐成为分类的遗传基础。根据所涉及的途径，它们目前分为四组疾病，其中包括胞外生质异常蛋白/核因子-κB（NFKB）途径，无翼型MMTV集成站点家族，成员10（[无翼相关集成站点]WNT10），肿瘤蛋白p63（TP63），和结构群。尽管试图隔离各种疾病，这些疾病的临床特征有很大程度的重叠，这使得全面的历史记录和临床检查对于帮助我们进行诊断和判断所涉及的各种系统非常重要。多学科方法构成了外胚层发育不良患者及其家庭管理的关键，以教育为重点，咨询,假肢,和整体康复前景。还必须特别注意筛查家庭成员是否有不同程度的疾病，并且必须尝试通过遗传咨询进行遗传诊断。
