Bartstra H L, Hulsmans R F, Steijlen P M, Ruige M, de Die-Smulders C E, Cassiman J J
Department of Dermatology, University Hospital of Nijmegen, The Netherlands.
Arch Dermatol. 1994 Nov;130(11):1421-4.
Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis, hypodontia, onychodysplasia and, as the most striking feature, hypohidrosis. The X-linked recessive form of HED, also known as Christ-Siemens-Touraine syndrome, is the most frequent and widely documented form. A clinically identical autosomal recessive form of HED has also been described. Because of the X-linked mode of inheritance, nearly all observations have concerned pedigrees of predominantly male affected patients. We present a rare isolated affected female child with a mosaic expression of HED. We attempted to assess the mode of inheritance in our case.
We documented the characteristic clinical appearance in our proband, as well as the scanning electron microscopic findings regarding the hair. The starch-iodine test results in this patient revealed the clinical expression of HED in a mosaic fashion, running along the Blaschko lines.
The starch-iodine test results proved to be useful in the assessment of carriers of X-linked HED, and our proband was considered to an isolated affected female with a mosaic expression of HED.
少汗型外胚层发育不良（HED）的特征为毛发稀少、牙齿发育不全、甲发育异常，其中最显著的特征是少汗。X连锁隐性遗传型HED，也称为克里斯蒂-西门子-图赖讷综合征，是最常见且记录广泛的类型。也已描述了一种临床症状相同的常染色体隐性遗传型HED。由于X连锁的遗传方式，几乎所有观察都涉及主要为男性受累患者的家系。我们报告了一名患有HED嵌合型表达的罕见孤立受累女童。我们试图评估我们病例中的遗传方式。
我们记录了先证者的特征性临床表现以及毛发的扫描电子显微镜检查结果。该患者的淀粉碘试验结果显示HED沿布拉斯科线呈嵌合型临床表达。
淀粉碘试验结果被证明有助于评估X连锁HED的携带者，我们的先证者被认为是一名患有HED嵌合型表达的孤立受累女性。
