PDF(Pubmed)
Abstract：
Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder caused by a mutation in either the ectodysplasin (EDA), ectodysplasin A receptor (EDAR), EDAR associated via death domain (EDARADD), or Wnt family member 10A (WNT10A) genes that result in impaired development of ectodermal-derived structures. The literature defines two types of ectodermal dysplasia, which are hypohidrotic and hidrotic. X-linked hypohidrotic ectodermal dysplasia (XLHED), also known as Christ-Siemens-Touraine syndrome, is the most common form and is a variant of ectodermal dysplasia characterized by a classical triad of hypo/adontia, hypohidrosis, and hypotrichosis; whereas, hidrotic type of ectodermal dysplasia, also known as Clouston syndrome, is characterized by a triad of onychodysplasia, hypotrichosis, and palmoplantar hyperkeratosis while sparing the sweat glands. Symptoms of XLHED can begin early in life between the ages of one month to 23 months. XLHED is more commonly seen in males due to the x-linked characteristics of the gene mutations. This disease can be diagnosed by physical exam alone, or in combination with molecular genetic testing. XLHED specifically has an estimated occurrence of one in every 20,000 newborns worldwide. Approximately 5,000 people in the United States have the disease. In this case report, we present an adult patient diagnosed with XLHED. Our objective is to emphasize the significance of early diagnosis, advocate for a multidisciplinary management approach, and shed light on the potential of recombinant protein and targeted gene therapy for further research. By raising awareness of this condition, we aim to improve patient outcomes not only in newborns but also in adults who have already been diagnosed with XLHED.
摘要：
多汗性外胚层发育不良（HED）是一种罕见的遗传性疾病，由外胚层发育不良蛋白（EDA）的突变引起，外生体异常蛋白A受体（EDAR），通过死亡域关联的EDAR(EDARADD)，或导致外胚层衍生结构发育受损的Wnt家族成员10A(WNT10A)基因。文献定义了两种类型的外胚层发育不良，多汗症和多汗症。X连锁多汗性外胚层发育不良（XLHED），也被称为Christ-Siemens-Touraine综合征,是最常见的形式，是外胚层发育不良的一种变体，其特征是经典的三联症/adontia，多汗症,和少枝症；然而，多汗症型外胚层发育不良，也被称为克鲁斯顿综合征，特征是三合会的甲发育不良，毛发减少症,和掌足底角化过度，同时保留汗腺。XLHED的症状可以在一个月至23个月之间的生命早期开始。由于基因突变的X连锁特征，XLHED在男性中更常见。这种疾病可以通过单独的体格检查来诊断，或者结合分子基因检测.XLHED在全球范围内，估计每20,000个新生儿中就有一个。在美国大约有5,000人患有这种疾病。在这个案例报告中,我们介绍了一名诊断为XLHED的成年患者。我们的目标是强调早期诊断的重要性，倡导多学科管理方法，并阐明了重组蛋白和靶向基因治疗的潜力，以供进一步研究。通过提高对这种情况的认识，我们的目标是不仅在新生儿中,而且在已经被诊断为XLHED的成年人中,改善患者的预后.
