Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14.
Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14.
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单纯性大疱性表皮松解症（Dowling-Meara 型）是一种遗传性疾病，其特征是涉及角蛋白 K5 和 K14 的角蛋白丝网络异常。
DOI：
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发表时间：
1991
影响因子：
6.5
通讯作者：
R. Eady
中科院分区：
文献类型：
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作者：
A. Ishida‐Yamamoto;J. McGrath;S. J. Chapman;I. Leigh;E. Lane;R. Eady
本文用光镜和电镜观察了17例单纯大疱性表皮松解症（EBS）患者皮肤样本中张力丝（TF）团块的分布和形态。在所有病变皮肤样本以及大多数病变周围和非病变皮肤样本中均可见TF团块从基底延伸到棘上表皮层。在附件上皮，包括外毛根鞘、汗管和皮脂腺，也发现了TF团块。两名患者培养的角化细胞也表现出特征性的TF团块。所有这些上皮细胞都有共同的角蛋白对K5和K14的表达。使用K5、K14和K10抗体的免疫金电镜检测发现，4例DM-EBS患者皮肤中的角蛋白表达与正常皮肤相似，K5和K14主要分布在基底细胞层，K10主要分布在基底细胞层上。DM-EBS样品中的团块TF在基底层和基上层被抗k5和K14抗体强烈标记。相比之下，基底上团块仅与抗k10抗体有轻微反应，标记通常仅限于团块的周围。我们得出结论，DM-EBS与涉及K5和K14对的角蛋白-丝网络的内在异常有关，这种异常可能导致基底表皮细胞对外部剪切力的抵抗力受损，从而导致特征性的表皮内水泡。DM-EBS可能成为第一个被认为具有特定角蛋白异常的遗传性皮肤病。
The distribution and morphology of tonofilament (TF) clumps were examined by light and electron microscopy in skin samples from a total of 17 patients with the Dowling-Meara (DM) form of epidermolysis bullosa simplex (EBS). TF clumps extending from the basal to the upper-spinous epidermal layer were seen in all lesional skin samples and in the majority of peri-lesional and non-lesional skin samples. TF clumps were also noted in adnexal epithelia, including outer hair root sheaths, sweat ducts, and sebaceous glands. Cultured keratinocytes from two patients also demonstrated characteristic TF clumps. All these epithelial cells have in common their expression of the keratin pair K5 and K14. Post-embedding immunogold electron microscopy using antibodies to K5, K14, and K10 showed similar expressed keratins in DM-EBS skin from four patients compared with normal skin, with K5 and K14 predominantly in the basal cell layer and K10 in the suprabasal layers. The clumped TF in DM-EBS samples were labeled strongly with anti-K5 and K14 antibodies in the basal and suprabasal layers. In contrast, the suprabasal clumps were only slightly reactive with anti-K10 antibodies and labeling was usually restricted to the periphery of the clumps. We conclude that DM-EBS is associated with an intrinsic abnormality of the keratin-filament network involving the K5 and K14 pair that is likely to result in impaired resistance of basal epidermal cells to external shearing forces, leading to the characteristic intraepidermal blisters. DM-EBS may become the first genetic skin disease to be recognized as having a specific keratin abnormality.