"Free-floating" desmosomes in lipoid proteinosis: An inherent defect in keratinocyte adhesion?
"Free-floating" desmosomes in lipoid proteinosis: An inherent defect in keratinocyte adhesion?
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DOI：
10.1111/j.1525-1470.2006.00159.x
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发表时间：
2006-01-01
影响因子：
1.5
通讯作者：
Paller, AS
中科院分区：
文献类型：
--
作者：
Dyer, JA;Yu, QC;Paller, AS
类脂蛋白沉着症的典型特征——珠状丘疹和声音嘶哑——是皮肤粘膜真皮中透明物质积累的结果。然而，儿童的特征性表现——导致疤痕的糜烂性、结痂性病变——却很少被讨论，也知之甚少。类脂蛋白沉积症是由细胞外基质蛋白 1 突变引起的，但该蛋白的功能很大程度上未知。我们对患有类脂蛋白沉积症的儿童的水泡病变的皮损表皮、培养的单层角质形成细胞和筏角质形成细胞培养物进行了超微结构研究。所有切片均显示相对完整的桥粒与角质形成细胞解离，桥粒“自由漂浮”在细胞间隙中或通过细链附着在细胞膜上。这些变化存在于组织和培养的角质形成细胞的连续切片中，表明这一观察结果是缺乏细胞外基质蛋白 1 的角质形成细胞的固有特征，而不是人为因素。尽管应研究更多患者，但内部致密斑块（角蛋白中间丝与桥粒蛋白的附着区域）外观的减少提供了初步证据，表明细胞外基质蛋白 1 可能参与角蛋白中间丝与桥粒区域蛋白的附着。
The classic features of lipoid proteinosis - beadlike papules and hoarseness - result from the accumulation of hyaline material in the mucocutaneous dermis. However, the characteristic manifestation in children - erosive, crusted lesions that lead to scarring - is rarely discussed and poorly understood. Lipoid proteinosis results from mutations in extracellular matrix protein 1, but the function of this protein is largely unknown. We performed ultrastructural studies on lesional epidermis, cultured monolayer keratinocytes, and raft keratinocyte cultures from blistering lesions of a child with lipoid proteinosis. All sections showed the dissociation of relatively intact desmosomes from keratinocytes, with desmosomes that were "free-floating" in the intercellular spaces or attached by thin strands to the cell membrane. These changes were present in serial sections of both tissue and cultured keratinocytes, suggesting this observation to be an inherent feature of keratinocytes devoid of extracellular matrix protein 1, rather than an artifact. Although additional patients should be studied, the diminished appearance of the inner dense plaque - the region of attachment of keratin intermediate filaments to desmosomal proteins - provides preliminary evidence that extracellular matrix protein 1 may participate in attaching keratin intermediate filaments to desmosomal region protein(s).