A Unique Presentation of Immuno‐Osseous Dysplasia
A Unique Presentation of Immuno‐Osseous Dysplasia
复制标题
免疫性骨发育不良的独特表现
DOI：
10.1111/j.1525-1470.2006.00260.x
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发表时间：
2006
影响因子：
1.5
通讯作者：
D. Paige
中科院分区：
文献类型：
--
作者：
V. Hubbard;A. Sahota;B. Callahan;S. Carr;D. Paige
翻译后摘要：免疫骨发育不良是一种罕见的条件下，短肢侏儒症与免疫缺陷。 其中最著名的是软骨毛发发育不全。然而，存在其他不同条件的几个报告，这些条件根据免疫缺陷被任意分类。我们提出了一个孩子与以前未报告的免疫和骨骼异常的组合，其中有一个不寻常的和独特的皮肤外观与缺陷的皮肤弹性纤维。这些皮肤特征表明与其他免疫性骨发育不良有统一的联系，但免疫和骨骼缺陷的结合暴露了当前分类方法的弱点。
Abstract: The immuno‐osseous dysplasias are a rare group of conditions in which short‐limbed dwarfism is associated with an immune defect. The best known of these is cartilage hair hypoplasia. However, several reports of other distinct conditions exist, which have been arbitrarily classified on the basis of the immune defect. We present a child with a previously unreported combination of immune and skeletal abnormalities in whom there was an unusual and distinctive skin appearance associated with defective cutaneous elastic fibers. These cutaneous features suggest a unifying link with other immuno‐osseous dysplasia but the combination of immune and skeletal defects exposes weaknesses in the current method of classification.