Characterization of pseudoxanthoma elasticum-like lesions in the skin of patients with β-thalassemia
Characterization of pseudoxanthoma elasticum-like lesions in the skin of patients with β-thalassemia
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DOI：
10.1067/mjd.2001.110045
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发表时间：
2001-01-01
影响因子：
13.8
通讯作者：
Pasquali-Ronchetti, I
中科院分区：
文献类型：
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作者：
Baccarani-Contri, M;Bacchelli, B;Pasquali-Ronchetti, I
工作背景：弹性纤维性假黄瘤（PXE）是一种遗传性疾病，其发病机制不明，其特征是弹性纤维矿化、胶原纤维改变和细胞外间隙中线状物质的积聚。PXE样临床病变已被描述在β-地中海贫血患者。Objective and Methods：在这两种遗传性疾病的皮肤病变进行了比较，通过光镜和电镜，免疫细胞化学。β-地中海贫血患者的弹性纤维矿化与玻连蛋白、骨唾液蛋白和碱性磷酸酶相关，与遗传性PXE中观察到的相似。此外，胶原纤维和细丝聚集体的异常在两种疾病中相同。在遗传性和β-地中海贫血相关的PXE，无关的基因缺陷似乎诱导细胞代谢异常，导致相同的临床和结构phenotypes.Conclusion：数据表明，β-地中海贫血患者可能会发生重要的结缔组织的改变，更好地了解这可能有助于预防临床并发症。
Background: Pseudoxanthoma elasticum (PXE), an inherited disorder of unknown pathogenesis, is characterized by elastic fiber mineralization, collagen fibril alterations, and accumulation of thread material in the extracellular space. PXE-like clinical lesions have been described in patients with beta -thalassemia.Objective and Methods: Dermal lesions in these two genetic disorders were compared by light and electron microscopy and by immunocytochemistry.Results: In both disorders, elastic fiber polymorphism, fragmentation, and mineralization were structurally identical. Elastic fiber mineralization in beta -thalassemia was associated with vitronectin, bone sialoprotein, and alkaline phosphatase, similar to what was observed in inherited PXE. Furthermore, abnormalities of collagen fibrils and filament aggregates were identical in both disorders. In both inherited and beta -thalassemia-associated PXE, unrelated gene defects seem to induce cell metabolic abnormalities that lead to identical clinical and structural phenotypes.Conclusion: Data indicate that patients with beta -thalassemia may undergo important alterations of connective tissues, a better understanding of which may help in preventing clinical complications.