Kobayasi Takasi
Department of Dermatology, University of Copenhagen, Bispebjerg Hospital, D-92, Bispebjerg Bakke 23, Copenhagen NV DK-2400, Denmark.
J Dermatol Sci. 2006 Mar;41(3):175-85. doi: 10.1016/j.jdermsci.2005.10.002. Epub 2005 Dec 1.
Elastic fibres in the inherited hypermobile disorders are probably abnormal on the inherited grounds. The abnormality may contribute for diagnosis and investigation of connective tissue biology.
The abnormality will be specific for every disorders and disclosed in the age-dependent change when exposure-dependent change was excluded.
Skin specimens from Ehlers-Danlos syndrome and hypermobile syndrome, Marfan syndrome, Osteogenesis imperfecta type I, homocysteinuria and normal controls are studied by routine electron microscopy. Age-dependent ultrastructural change of broad elastic fibres was evaluated in reticular dermis.
Age-dependent change was categorized in infantile, adolescent, adult and senile pattern. Infantile pattern showed normal ultrastructure. Degeneration was first found in adolescent pattern by disarrayed microfibrils and degenerate matrix. Degeneration proceeded in adult pattern and ended in senile pattern. Typical abnormality developed in adult pattern. Ehlers-Danlos syndrome and hypermobile syndrome showed no specific abnormality but the degeneration began earlier and was severer than the control. Marfan syndrome showed defects of microfibrils and matrix surface. Moth-eaten figure was characteristic. Osteogenesis imperfecta showed abnormal matrix and revealed homogenous bulges of matrix. Homocysteinuria was specified by numerous microfibrils on the matrix surface in infantile pattern.
Abnormality of elastic fibre was recognized in the reticular dermis of elbow. Ehlers-Danlos syndrome and hypermobile syndrome showed no specific abnormality but the degeneration was more intensive than the control. Abnormality of Marfan syndrome was degeneration of elastic microfibrils and matrix surface, Osteogenesis imperfecta was characterized by excess amount of matrix. Homocysteinuria revealed numerous microfibrils. Ultrastructural abnormality provided grounds for studies on histopathology and biology of elastic fibre.
遗传性关节活动过度障碍中的弹性纤维可能基于遗传原因而异常。这种异常可能有助于结缔组织生物学的诊断和研究。
当排除暴露依赖性变化时，这种异常将针对每种疾病具有特异性，并在年龄依赖性变化中显现出来。
通过常规电子显微镜研究来自埃勒斯-当洛综合征、关节活动过度综合征、马凡综合征、Ⅰ型成骨不全症、同型胱氨酸尿症患者以及正常对照者的皮肤标本。评估网状真皮中粗大弹性纤维的年龄依赖性超微结构变化。
年龄依赖性变化分为婴儿型、青少年型、成人型和老年型。婴儿型显示超微结构正常。青少年型中首先发现微原纤维排列紊乱和基质退变。退变在成人型中继续发展，并在老年型中结束。典型异常在成人型中出现。埃勒斯-当洛综合征和关节活动过度综合征未显示特异性异常，但退变开始得更早且比对照更严重。马凡综合征显示微原纤维和基质表面缺陷。虫蚀样外观具有特征性。成骨不全症显示基质异常，并呈现基质均匀隆起。同型胱氨酸尿症在婴儿型中表现为基质表面有大量微原纤维。
在肘部网状真皮中发现弹性纤维异常。埃勒斯-当洛综合征和关节活动过度综合征未显示特异性异常，但退变比对照更严重。马凡综合征的异常是弹性微原纤维和基质表面退变，成骨不全症的特征是基质过多。同型胱氨酸尿症显示有大量微原纤维。超微结构异常为弹性纤维的组织病理学和生物学研究提供了依据。
