Fidzianska A, Jablonska S
Department of Neurology, Warsaw School of Medicine, Medical Research Centre, Polish Academy of Sciences, Warsaw.
J Am Acad Dermatol. 2000 Nov;43(5 Pt 1):797-802. doi: 10.1067/mjd.2000.107961.
A scleroderma-like genetic disease, congenital fascial dystrophy, probably a variant of stiff skin syndrome described by Esterly and McKusick, was found to be related to genetically determined fascial abnormalities. Our previous electronmicroscopic study disclosed as a main pathologic finding presence of giant amianthoid-like collagen fibrils in the affected fascia.
The aim of the present study was to disclose the collagen abnormalities in the affected and control fascias and in the patient's fibroblast cultures derived from the skin and fascia.
The study was performed by histologic, immunohistochemical, and electronmicroscopic techniques. Immunohistochemical studies were done with the use of monoclonal antibodies: anti-collagens I, III, IV, and VI, anti-laminin, anti-fibronectin, anti-desmin, anti-spectrin, anti-vimentin, anti-laminin, anti-heparan sulfate, and anti-alpha-actinin. Electronmicroscopic studies were performed on the fascia sections and on cultured fibroblasts.
The main abnormality leading to giant collagen fibril formation was presence of myofibroblasts, absence of collagen III, and overproduction of spectrin and collagen type VI, mainly its filamentous form.
Our findings suggest that the abnormal composition of the fascia could depend on modulation of fibroblasts into myofibroblasts capable of producing spectrin and long-spacing collagen.
一种硬皮病样遗传病，先天性筋膜营养不良，可能是埃斯特利和麦库西克描述的硬皮综合征的一种变体，被发现与基因决定的筋膜异常有关。我们之前的电子显微镜研究揭示，在受影响的筋膜中存在巨大石棉样胶原纤维是主要病理发现。
本研究的目的是揭示受影响和对照筋膜以及患者皮肤和筋膜来源的成纤维细胞培养物中的胶原异常。
该研究采用组织学、免疫组织化学和电子显微镜技术进行。免疫组织化学研究使用单克隆抗体进行：抗I、III、IV和VI型胶原抗体、抗层粘连蛋白抗体、抗纤连蛋白抗体、抗结蛋白抗体、抗血影蛋白抗体、抗波形蛋白抗体、抗层粘连蛋白抗体、抗硫酸乙酰肝素抗体和抗α-辅肌动蛋白抗体。对筋膜切片和培养的成纤维细胞进行电子显微镜研究。
导致巨大胶原纤维形成的主要异常是肌成纤维细胞的存在、III型胶原的缺失以及血影蛋白和VI型胶原（主要是丝状形式）的过度产生。
我们的研究结果表明，筋膜的异常组成可能取决于成纤维细胞向能够产生血影蛋白和长间距胶原的肌成纤维细胞的转变。
