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世界核心医学期刊文摘（皮肤病学分册） 2005年第1期1卷 58-59页

作者： Rouse C. Siegfried E. breerw. Nahass G. 罗素菊冯义国 Department ofDermatology Saint LouisUniversity 1034 S Brentwood Blvd St. Louis MO 63117 United States Dr.

Objectives: To gather and compare clinical and histologic information from individuals affected by hypohidrotic ectodermal dysplasia (HED) and unaffected control subjects and to assess the value of these data in the diagnosis of HED. Design: Volunteer subjects attending the 20th Annual Family Conference of the National Foundation for Ectodermal Dysplasia answered a questionnaire and performed a starch-iodide sweat-function test. A subset of the subjects also donated samples of hair and 4-mm punch biopsy specimens of palmar and scalp skin. Specimens from each of these tests were assessed in a blinded fashion. Analysis was performed comparing affected and control subjects for each of the following parameters: quantification of eccrine structures in the skin biopsy specimens, analysis of hair sample trichograms for hair shaft defects, and qualitative classification of starchiodide palm-print sweat-function test results. Settings: An international conference for families and individuals with ectodermal dysplasias. Subjects: A total of 40 subjects were included in the final analysis: 15 unaffected control subjects and 25 subjects with HED. Nine affected subjects and 9 unaffected subjects donated skin biopsy specimens. Main Outcome Measure: This study was designed to assess the value of 4 simple tests in supporting the diagnosis of HED. Results: Investigators were blinded to group during analysis of the test samples. Trichogram examination identified 3 hair shaft abnormalities, with a slightly higher prevalence in the affected group: variable shaft thickness, trichorrhexis nodosa, and pili torti. The sensitivity and specificity for each of these findings was less than 40%. Starch-iodide paper palm imprints identified a higher likelihood of diminished or absent sweat in the affected group, but this test had a low sensitivity (44%) and an imperfect specificity (93%). Examination of horizontally sectioned skin biopsy specimens from the palm were devoid of eccrine structures

关键词：外胚叶发育不良活检标本掌部盲法定性结果形态学诊断毛干功能试验水平切片

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