Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin.
Wayne State University School of Medicine, Detroit, Michigan.
Am J Med Genet A. 2020 Apr;182(4):831-841. doi: 10.1002/ajmg.a.61493. Epub 2020 Jan 25.
The objective of this study was to review the published literature on X-linked hypohidrotic ectodermal dysplasia (XLHED) for the prevalence and characteristics of three features of XLHED: hypodontia, hypohidrosis, and hypotrichosis. A systematic search of English-language articles was conducted in May 2019 to identify publications with information on any of the three features of XLHED. We excluded studies with five or fewer participants, that did not specify X-linked inheritance or an EDA mutation, and discussed only management of features. The weighted means for total missing teeth, location of missing teeth, prevalence of reduced and absent sweating ability, and sparse or absent hair were analyzed across all studies. Additional findings for hypodontia, hypohidrosis, and hypotrichosis were summarized qualitatively. Twenty publications (18 studies) were accepted. Reported findings for males tended to be more informative than for carrier females. The weighted mean for missing teeth for affected males was 22.4 (range: 10-28) and carrier females was 3.4 (range: 0-22). The most common conserved teeth for males were the canines. The most common missing teeth for females were the maxillary lateral incisors. The weighted mean prevalence of reduced or absent sweating ability was 95.7% for males and 71.6% for females. The weighted mean prevalence for hypotrichosis was 88.1% for males and 61.6% for females. This systematic review provides insight into the prevalence, characteristics, and variability of the three classic features of XLHED. These findings provide detailed natural history information for families with XLHED as well as key characteristics that can aid in diagnosis.
本研究的目的是回顾已发表的关于 X 连锁性少汗型外胚层发育不良（XLHED）的文献，以了解 XLHED 的三个特征（缺牙、少汗和毛发稀疏）的流行情况和特征。我们于 2019 年 5 月进行了一项英语文献的系统检索，以确定有任何三种 XLHED 特征信息的出版物。我们排除了参与者少于 5 人、未明确 X 连锁遗传或 EDA 突变、仅讨论特征管理的研究。我们对所有研究进行了总缺牙数、缺牙部位、减少和无汗能力流行率以及稀疏或无发的加权均值分析。此外，我们还对缺牙、少汗和毛发稀疏进行了定性总结。接受了 20 篇出版物（18 项研究）。男性的报告结果往往比携带者女性的报告结果更具信息量。受影响男性的缺牙加权平均值为 22.4（范围：10-28），携带者女性为 3.4（范围：0-22）。男性最常见的缺失牙齿是犬齿。女性最常见的缺失牙齿是上颌侧切牙。男性减少或无汗能力的加权患病率为 95.7%，女性为 71.6%。男性毛发稀疏的加权患病率为 88.1%，女性为 61.6%。本系统评价提供了对 XLHED 的三个经典特征的流行情况、特征和变异性的深入了解。这些发现为 XLHED 患者的家庭提供了详细的自然病史信息，以及有助于诊断的关键特征。
