Abstract：
Mutation of just a single extracellular matrix protein, a receptor or enzyme involved in connective tissue metabolism is sufficient to cause systemic pathologies and failure of tissues that are subjected to strong mechanical stresses. Skin histological and computerized image analyses can provide a good qualitative and quantitative indication of these inherited connective tissue diseases. In this study, skin biopsies from young (10 to 25 years) and middle-aged patients (26 to 50 years) suffering from Ehlers-Danlos syndromes (EDS), Marfan syndrome (MS) or pseudoxanthoma elasticum (PXE) were studied after specific staining of both the collagen and elastic networks. Findings from the histomorphometric analyses conducted on skin sections of the patients with EDS, MS and PXE were compared to skin sections of healthy subjects from the same age groups. Our results show that both the collagen and the elastic networks were affected in all the studied pathological cases, but that the adverse changes to the elastic network in older patients were distinct from the physiological changes observed during aging process for healthy subjects. This degenerative process may be explained by an added phenomenon involving a general connective tissue proteolysis.
摘要：
只有一个细胞外基质蛋白的突变，参与结缔组织代谢的受体或酶足以引起全身病理和受到强机械应力的组织的破坏。皮肤组织学和计算机图像分析可以为这些遗传性结缔组织疾病提供良好的定性和定量指示。在这项研究中,对患有Ehlers-Danlos综合征（EDS）的年轻（10至25岁）和中年（26至50岁）患者进行皮肤活检，在对胶原蛋白和弹性网络进行特异性染色后，研究了马凡氏综合征（MS）或弹性假黄瘤（PXE）。对EDS患者皮肤切片进行的组织形态学分析的结果，将MS和PXE与来自相同年龄组的健康受试者的皮肤切片进行比较。我们的结果表明，在所有研究的病理病例中，胶原蛋白和弹性网络都受到影响，但是老年患者弹性网络的不利变化与健康受试者在衰老过程中观察到的生理变化不同。这种变性过程可以通过涉及一般结缔组织蛋白水解的附加现象来解释。
