Paige D G, Morse-Fisher N, Harper J I
Department of Dermatology, Hospital for Sick Children, London, U.K.
Br J Dermatol. 1994 Jul;131(1):23-7. doi: 10.1111/j.1365-2133.1994.tb08452.x.
Ceramides (sphingolipids) are the main polar lipids of the stratum corneum and play an important role in skin barrier function, cell adhesion and epidermal differentiation. In view of the function of ceramides in normal skin, this study aimed to assess their levels in patients with various types of hereditary ichthyosis, in which epidermal homeostasis is markedly abnormal. Stratum corneum samples were collected from 80 patients and 23 normal controls, and the intercellular and lipid envelope ceramides were analysed by high-performance thin-layer chromatography. The covalently bound ceramides (ceramides A and B) of the lipid envelope were present in all patients studied, and showed no significant differences from control samples. Total ceramides (ceramides 1-6) were decreased in bullous ichthyosiform erythroderma, which is presumably a secondary phenomenon similar to that seen in patients with atopic dermatitis. Patients with non-erythrodermic lamellar ichthyosis showed a marked decrease in levels of the important acylceramide, ceramide 1, whereas those with other types of autosomal recessive ichthyosis (limited lamellar ichthyosis and non-bullous ichthyosiform erythroderma) had mean levels similar to the controls. Ceramide 1 deficiency may therefore define a subgroup within the autosomal recessive ichthyoses. Sjögren-Larsson syndrome (SLS) shows a deficiency of both acyl-ceramides (ceramides 1 and 6), which would seem likely to disrupt the normal skin barrier function. Furthermore, glucosylceramides (cerebrosides) are known to be deficient in the neural tissue of patients with SLS. The relationship of these ceramide abnormalities to the underlying fatty alcohol oxidoreductase defect remains uncertain, but they may provide an interesting link between the nerve damage and cutaneous abnormalities seen in this rare neurodermatosis.
神经酰胺（鞘脂）是角质层的主要极性脂质，在皮肤屏障功能、细胞黏附和表皮分化中起重要作用。鉴于神经酰胺在正常皮肤中的功能，本研究旨在评估其在各种类型遗传性鱼鳞病患者中的水平，这些患者的表皮稳态明显异常。从80例患者和23名正常对照者中采集角质层样本，通过高效薄层色谱法分析细胞间和脂质包膜神经酰胺。脂质包膜的共价结合神经酰胺（神经酰胺A和B）在所有研究患者中均存在，与对照样本无显著差异。大疱性鱼鳞病样红皮病患者的总神经酰胺（神经酰胺1 - 6）减少，这可能是一种类似于特应性皮炎患者所见的继发现象。非红皮病性板层状鱼鳞病患者的重要酰基神经酰胺神经酰胺1水平显著降低，而其他类型常染色体隐性鱼鳞病（局限性板层状鱼鳞病和非大疱性鱼鳞病样红皮病）患者的平均水平与对照者相似。因此，神经酰胺1缺乏可能定义了常染色体隐性鱼鳞病中的一个亚组。舍格伦 - 拉尔松综合征（SLS）表现为酰基神经酰胺（神经酰胺1和6）均缺乏，这似乎可能破坏正常的皮肤屏障功能。此外，已知SLS患者的神经组织中葡糖神经酰胺（脑苷脂）缺乏。这些神经酰胺异常与潜在的脂肪醇氧化还原酶缺陷之间的关系仍不确定，但它们可能为这种罕见的神经皮肤病中所见的神经损伤和皮肤异常之间提供一个有趣的联系。
