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  • 标题:A case of restrictive dermopathy
  • 本地全文:下载
  • 作者:Lee, Seung Ik ; Hong, Chang Hee ; Cheong, Yun Ha
  • 期刊名称:Korean Journal of Pediatrics
  • 印刷版ISSN:1738-1061
  • 出版年度:2007
  • 卷号:50
  • 期号:3
  • 页码:306-310
  • DOI:10.3345/kjp.2007.50.3.306
  • 语种:English
  • 出版社:The Korean Pediatric Society
  • 摘要:

    Restrictive dermopathy is a rare autosomal recessive disorder in which rigidity or tautness of the skin from the second trimester causes a fetal akinesia deformation sequence (FADS) and early death. Characteristic features include taut skin with prominent subcutaneous vessels, widely open fontanelles and cranial sutures, distinctive facies, flexion contractures, pulmonary hypoplasia, sparse eyelashes and and eyebrows, thin dysplastic clavicles. The histologic abnormalities of the skin are located in a thin dermis, consisting of compactly arranged collagen fibers, scanty elastic fiber. The dermoepidermal junction is flat, and epidermal appendages are absent, miniaturized or immature. The presence of adipose tissue may be increased. We report on the first Korean case of restrictive dermopathy with typical clinical features and histological findings.

  • 关键词:Restrictive dermopathy; Joint contractures; Skin dysplasia; Fetal akinesia
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