EPIDERMOLYSIS-BULLOSA SIMPLEX (DOWLING-MEARA) - A CLINICOPATHOLOGICAL REVIEW
EPIDERMOLYSIS-BULLOSA SIMPLEX (DOWLING-MEARA) - A CLINICOPATHOLOGICAL REVIEW
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DOI：
10.1111/j.1365-2133.1992.tb11813.x
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发表时间：
1992-05-01
影响因子：
10.3
通讯作者：
EADY, RAJ
中科院分区：
文献类型：
--
作者：
MCGRATH, JA;ISHIDAYAMAMOTO, A;EADY, RAJ
本文回顾了22例Dowling-Meara型单纯性大疱性表皮松解症(DM-EBS)的临床病理特征。所有病例均在出生后5天内出现临床表现。早期的水泡通常很大(直径最大可达5厘米)，且多为肢端，尤其是指尖周围。一些病例表现出更广泛的腐蚀性皮肤变化，两名广泛皮肤受累的新生儿死于压倒性脓毒症。新生儿期后出现不同类型的水泡，近端出血较多，疱疹状水泡丛生。中央愈合与反复水泡在这些区域的边缘经常被注意到。其他体征包括口腔内不同程度的起泡、指甲脱落、指甲营养不良、轻微疤痕、掌底角化病、在儿童后期缺乏季节性变化和改善。DM-EBS的潜在病理机制是基底细胞溶解，或罕见的棘细胞松解，与张力丝(Tf)聚集相关。在皮损、皮损周围及部分非皮损皮肤中可见Tf聚集，提示张力丝异常可能是DM-EBS的主要病因学意义。Tf的聚集可能是由于特殊的角蛋白异常所致，因为改变的Tf的分布类似于已知的基底细胞角蛋白K5和K14的分布。表皮基底层的水泡程度总是很低，基底膜上的水泡通常不到0.5微米。我们的结论是，DM-EBS是一种独特的、可能被低估的遗传性皮肤病，往往具有良好的预后。然而，疾病有时会很严重，特别是在新生儿期，当它可能被混淆为交界性或严重的隐性营养不良EB。电子显微镜是显示特征性细胞骨架疾病并确认诊断的最佳手段。
The clinicopathological features of 22 cases of the Dowling-Meara form of epidermolysis bullosa simplex (DM-EBS) (11 males, 11 females; aged 5 days-46 years) were reviewed using data collected over a 10-year period. All cases presented clinically within the first 5 days of life. Early blisters were often large (up to 5 cm in diameter), and were mostly acral and particularly periungual. Some cases presented with more widespread erosive skin changes, and two neonates with extensive skin involvement died as a result of overwhelming sepsis. After the neonatal period a different pattern of blistering occurred with more proximal haemorrhagic, herpetiform clusters of blisters. Central healing with recurrent blistering at the margins of these areas was frequently noted. Other physical signs included varying degrees of intra-oral blistering, nail shedding, nail dystrophy, minor scarring, palmo-plantar keratoderma, a lack of seasonal variation and improvement during later childhood. The underlying pathological mechanism in DM-EBS is basal cell cytolysis, or rarely acantholysis, in association with tonofilament (TF) clumping. TF clumping was found in lesional, perilesional and some non-lesional skin, suggesting that the tonofilament abnormality may be of primary aetiological significance in DM-EBS. TF clumping may be due to specific keratin abnormalities because the altered TF were found in a distribution similar to the known distribution of the basal cell keratins, K5 and K14. The level of blistering was invariably very low within the epidermal basal layer and often less than 0.5-mu-m above the basement membrane. We conclude that DM-EBS is a distinct, and probably under-recognized genodermatosis which tends to have a good prognosis. However, the disease can occasionally be severe, especially during the neonatal period, when it may be confused with junctional or severe recessive dystrophic EB. Electron microscopy is the best means for demonstrating the characteristic cytoskeletal disorder and confirming the diagnosis.