PDF(Pubmed)
Abstract：
Hypohidrotic ectodermal dysplasia (HED), often referred to as Christ-Siemens-Touraine syndrome, is an uncommon inherited genetic disorder characterized by irregularities in structures derived from the ectoderm, such as skin, hair, nails, teeth, and sweat glands. Common manifestations include thin hair, absent teeth (hypodontia) often pointed in shape, and diminished ability to sweat (hypohidrosis). Changes in the ectodysplasin A (EDA) gene are associated with the development of HED. Addressing this condition requires an integrated, interdisciplinary strategy to ensure the best possible support for individuals impacted. This case highlights the significance of early detection, collaborative care, and targeted interventions in managing HED. Continued research is crucial for creating novel therapies and enhancing life quality for those living with this rare condition. Here, we discuss a 22-year-old male patient displaying features such as hypodontia, sparse hair (hypotrichosis), irregular beard growth, a nasal deformity, and an inability to sweat (anhidrosis), which is associated with increased body temperature.
摘要：
汗症外胚层发育不良（HED），通常被称为基督-西门子-图拉因综合征，是一种罕见的遗传性遗传疾病，其特征是外胚层结构不规则，如皮肤，头发,指甲,牙齿,和汗腺。常见的表现包括稀疏的头发，缺齿（缺齿）通常在形状上指向，出汗能力下降（少汗症）。胞外发育不良蛋白A（EDA）基因的变化与HED的发展有关。解决这一问题需要一个综合的，跨学科战略，以确保为受影响的个人提供最佳支持。这个案例凸显了早期发现的意义,协作式护理,以及有针对性的干预措施来管理HED。持续的研究对于创造新疗法和提高患有这种罕见疾病的人的生活质量至关重要。这里,我们讨论了一名22岁的男性患者，表现出诸如低聚症之类的特征，稀疏的头发（少毛症），不规则的胡须生长，鼻畸形,和不能出汗（无汗症），这与体温升高有关。
