Fölster-Holst R, Naß C, Dähnhardt-Pfeiffer S, Freitag-Wolf S
Department of Dermatology, Venereology and Allergology, University Hospital Schleswig-Holstein, Kiel, Germany.
Microscopy Services Dähnhardt GmbH, Flintbek, Germany.
J Eur Acad Dermatol Venereol. 2022 May;36(5):726-738. doi: 10.1111/jdv.17914. Epub 2022 Jan 27.
Ichthyoses are pathogenetically characterized by a pronounced disorder of the epidermal barrier. Clinically, hyperkeratosis, severe scaling and erythroderma are present on the entire integument. The time-consuming therapy includes daily baths and the application of skin care products to restore the epidermal barrier.
To enhance the knowledge about the structure and function of the epidermal barrier in ichthyoses, we conducted clinical, biophysical and electron microscopical measurements on 46 patients with ichthyoses, including autosomal recessive ichthyoses, keratinopathic ichthyoses, X-chromosomal-recessive ichthyosis and Netherton syndrome.
The patients displayed a significantly decreased skin hydration along with unexpectedly low transepidermal waterloss values. Electron microscopical examinations demonstrated a severe occlusion of the epidermis by lipid remnants of skin care products in the stratum corneum. We found decreased intercellular lipid lamellae and an increased undulation of the corneocyte membrane of all ichthyoses, mostly pronounced in Netherton syndrome. The lipid profiles of ichthyoses showed decreased esterified Ω-hydroxy-sphingosine (EOS) ceramide levels.
The results demonstrate the extent of the epidermal barrier disruption in ichthyoses. In combination with the knowledge about pathogenetic causes, individually improved therapeutic options can be derived from our results. In the future, the analyses of the organization of intercellular lipid lamellae and corneocyte membrane undulation will enable improved investigations of the epidermal barrier in ichthyoses and may be used to study and evaluate possible effects of topical skin preparations.
鱼鳞病的发病机制以表皮屏障的明显紊乱为特征。临床上，全身皮肤出现角化过度、严重脱屑和红皮病。耗时的治疗方法包括每日沐浴和使用护肤品以恢复表皮屏障。
为了增进对鱼鳞病表皮屏障结构和功能的了解，我们对46例鱼鳞病患者进行了临床、生物物理和电子显微镜测量，这些患者包括常染色体隐性鱼鳞病、角蛋白病性鱼鳞病、X染色体隐性鱼鳞病和Netherton综合征。
患者的皮肤水合作用显著降低，同时经表皮水分流失值意外地低。电子显微镜检查显示角质层中护肤品的脂质残余物严重阻塞了表皮。我们发现所有鱼鳞病的细胞间脂质层减少，角质形成细胞膜的起伏增加，在Netherton综合征中最为明显。鱼鳞病的脂质谱显示酯化的Ω-羟基鞘氨醇（EOS）神经酰胺水平降低。
结果表明鱼鳞病中表皮屏障破坏的程度。结合对发病原因的了解，我们的结果可以得出个性化的改进治疗方案。未来，对细胞间脂质层组织和角质形成细胞膜起伏的分析将有助于改进对鱼鳞病表皮屏障的研究，并可用于研究和评估局部皮肤制剂的可能效果。
