Characterization of X-linked hypohidrotic ectodermal dysplasia (XL-HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging.
Characterization of X-linked hypohidrotic ectodermal dysplasia (XL-HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging.
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DOI：
10.1002/ajmg.a.35959
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发表时间：
2013-07
影响因子：
2
通讯作者：
Klein, Ophir D.
中科院分区：
文献类型：
--
作者：
Jones, Kyle B.;Goodwin, Alice F.;Landan, Maya;Seidel, Kerstin;Dong-Kha Tran;Hogue, Jacob;Chavez, Miquella;Fete, Mary;Yu, Wenli;Hussein, Tarek;Johnson, Ramsey;Huttner, Kenneth;Jheon, Andrew H.;Klein, Ophir D.
关键词：
少汗性外胚层发育不良（HED）是最常见的外胚层发育不良（ED）类型，它包括一大组具有几个表型特征的综合征，如外胚层结构缺失或畸形，包括皮肤、头发、汗腺和牙齿。x连锁少汗性外胚层发育不良（XL-HED）与外胚层发育不良蛋白（EDA1）突变有关。由于汗腺发育不全和头发稀疏而导致的多汗症是显著影响XL-HED个体日常生活的表型特征，因此需要系统分析。我们试图确定XL-HED患者的生活质量，并使用共聚焦成像、匹罗卡品离子电泳和光电泳分析来量化汗管和头发表型。使用这些高度敏感和非侵入性的技术，我们证明了11/12的XL-HED患者完全没有汗管，也没有出汗。我们确定，在xml - hed中观察到的细毛表型是由于多种因素造成的，例如终末毛较少，厚度减少，生长速度较慢，以及毛囊单位较少，每单位毛发较少。在我们的研究中，使用敏感和非侵入性技术精确表征XL-HED表型，将改进更大的基因型-表型研究，并评估未来的XL-HED治疗方法。
Hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia (ED), which encompasses a large group of syndromes that share several phenotypic features such as missing or malformed ectodermal structures, including skin, hair, sweat glands, and teeth. X-linked hypohidrotic ectodermal dysplasia (XL-HED) is associated with mutations in ectodysplasin (EDA1). Hypohidrosis due to hypoplastic sweat glands and thin, sparse hair are phenotypic features that significantly affect the daily lives of XL-HED individuals and therefore require systematic analysis. We sought to determine the quality of life of individuals with XL-HED and to quantify sweat duct and hair phenotypes using confocal imaging, pilocarpine iontophoresis, and phototrichogram analysis. Using these highly sensitive and non-invasive techniques, we demonstrated that 11/12 XL-HED individuals presented with a complete absence of sweat ducts and that none produced sweat. We determined that the thin hair phenotype observed in XL-HED was due to multiple factors, such as fewer terminal hairs with decreased thickness and slower growth rate, as well as fewer follicular units and fewer hairs per unit. The precise characterization of XL-HED phenotypes using sensitive and non-invasive techniques presented in our study will improve upon larger genotype-phenotype studies and in the assessment of future therapies in XL-HED.
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影响因子：
2.5
作者：
Casal, ML;Scheidt, JL;Werner, P
通讯作者：
Werner, P
影响因子：
3
作者：
Courtney, JM;Blackburn, J;Sharpe, PT
通讯作者：
Sharpe, PT
影响因子：
10.3
作者：
Van Neste, D;Fuh, V;Kaufman, KD
通讯作者：
Kaufman, KD
影响因子：
11.8
作者：
Zhang, Yuhang;Tomann, Philip;Andl, Thomas;Gallant, Natalie M.;Huelsken, Joerg;Jerchow, Boris;Birchmeier, Walter;Paus, Ralf;Piccolo, Stefano;Mikkola, Marja L.;Morrisey, Edward E.;Overbeek, Paul A.;Scheidereit, Claus;Millar, Sarah E.;Schmidt-Ullrich, Ruth
通讯作者：
Schmidt-Ullrich, Ruth
影响因子：
3.5
作者：
Fujimoto, Akihiro;Kimura, Ryosuke;Tokunaga, Katsushi
通讯作者：
Tokunaga, Katsushi