Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome
Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome
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DOI：
10.1111/cge.12414
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发表时间：
2014-11-01
影响因子：
3.5
通讯作者：
Alkuraya, F. S.
中科院分区：
文献类型：
--
作者：
Aldeeri, A. A.;Alazami, A. M.;Alkuraya, F. S.
一些脐带异常与某些综合征有关并可用于帮助临床诊断。例如，脐部皮肤冗余长期以来一直被认为是里格综合征的核心特征，尽管其与其他疾病的关联尚不清楚。在本文中，我们首次报告了这种独特临床症状与另外两种综合征相关的情况：Morquio 综合征和 FKBP14 相关的 Ehlers-Danlos 综合征 (EDS)。我们的观察具有临床意义，因为莫尔基奥综合征患者通常只有在出现典型的骨骼表现后才能被诊断，这降低了可用酶替代疗法的疗效，因此我们在此报告的脐带体征可以促进更早的诊断。此外，FKBP14 相关的 Ehlers-Danlos 综合征 (EDS) 极为罕见，除非在多余脐部皮肤的鉴别诊断中得到认可，否则可能会大大延迟这种情况的诊断，正如我们在本报告中指出的那样。
Several umbilical abnormalities have been linked to and utilized to aid in the clinical diagnosis of certain syndromes. For instance, umbilical skin redundancy has long been recognized as a core feature of Rieger syndrome although its association with other disorders is unknown. In this article, we report for the first time the occurrence of this distinct clinical sign in association with two other syndromes: Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome (EDS). Our observation is clinically significant because patients with Morquio syndrome are often diagnosed only after they develop typical skeletal manifestations, which reduces the efficacy of available enzyme replacement therapy, so the umbilical sign we report here can facilitate a much earlier diagnosis. In addition, the extreme rarity of FKBP14-related Ehlers-Danlos syndrome (EDS) can greatly delay the diagnosis of this condition unless it is recognized in the differential diagnosis of redundant umbilical skin as we argue in this report.