Laboratorio de Inmunología, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México, Tlalnepantla, Mexico.
Laboratorio de Investigación en Biología Molecular y Celular del Cáncer, Departamento de Genética y Biología Molecular, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional, Ciudad de México, Mexico.
Int J Dermatol. 2018 Aug;57(8):965-972. doi: 10.1111/ijd.14048. Epub 2018 May 31.
Hypohidrotic Ectodermal Dysplasia (HED) is a genetic human disorder which affects structures of ectodermal origin. Although there are autosomal recessive and dominant forms, X-linked (XL) is the most frequent form of the disease. This XL-HED phenotype is associated with mutations in the gene encoding the transmembrane protein ectodysplasin-1 (EDA1), a member of the TNFα-related signaling pathway. The proteins from this pathway are involved in signal transduction from ectoderm to mesenchyme leading to the development of ectoderm-derived structures in the fetus such as hair, teeth, skin, nails, and eccrine sweat glands. The aim of this review was to update the main clinical characteristics of HED regarding to recent molecular advances in the comprehension of all the possible genes involved in this group of disorders since it is known that Eda-A1-Edar signaling has multiple roles in ectodermal organ development, regulating their initiation, morphogenesis, and differentiation steps. The knowledge of the biological mechanisms that generate HED is needed for both a better detection of possible cases and for the design of efficient prevention and treatment approaches.
先天性外胚层发育不全（HED）是一种影响外胚层起源结构的人类遗传性疾病。虽然存在常染色体隐性和显性形式，但 X 连锁（XL）是该病最常见的形式。这种 XL-HED 表型与编码跨膜蛋白外胚层蛋白 1（EDA1）的基因突变有关，EDA1 是 TNFα 相关信号通路的成员。该途径的蛋白参与从外胚层到间充质的信号转导，导致胎儿中由外胚层衍生的结构的发育，如毛发、牙齿、皮肤、指甲和小汗腺。本综述的目的是更新 HED 的主要临床特征，以了解所有可能涉及该组疾病的基因的最新分子进展，因为已知 Eda-A1-Edar 信号在多个方面发挥作用外胚层器官发育，调节它们的启动、形态发生和分化步骤。了解导致 HED 的生物学机制对于更好地发现可能的病例以及设计有效的预防和治疗方法都是必要的。
