Abstract：
BACKGROUND: Primary cutaneous mucinoses (PCM) are rare diseases characterized by dermal or follicular mucin deposits.
OBJECTIVE: A retrospective study characterizing PCM to compare dermal with follicular mucin to identify its potential origin on a single-cell level.
METHODS: Patients diagnosed with PCM between 2010 and 2020 at our department were included in this study. Biopsy specimens were stained using conventional mucin stains (Alcian blue, PAS) and MUC1 immunohistochemical staining. Multiplex fluorescence staining (MFS) was used to investigate which cells were associated with MUC1 expression in select cases.
RESULTS: Thirty-one patients with PCM were included, 14 with follicular mucinosis (FM), 8 with reticular erythematous mucinosis, 2 with scleredema, 6 with pretibial myxedema and one patient with lichen myxedematosus. In all 31 specimens, mucin stained positive for Alcian blue and negative for PAS. In FM, mucin deposition was exclusively found in hair follicles and sebaceous glands. None of the other entities showed mucin deposits in follicular epithelial structures. Using MFS, all cases showed CD4+ and CD8+ T cells, tissue histiocytes, fibroblasts and pan-cytokeratin+ cells. These cells expressed MUC1 at different intensities. MUC1 expression in tissue histiocytes, fibroblasts, CD4+ and CD8+ T cells, and follicular epithelial cells of FM was significantly higher than the same cell types in the dermal mucinoses (p < 0.001). CD8+ T cells were significantly more involved in expression of MUC1 than all other analysed cell types in FM. This finding was also significant in comparison with dermal mucinoses.
CONCLUSIONS: Various cell types seem to contribute to mucin production in PCM. Using MFS, we showed that CD8+ T cells seem to be more involved in the production of mucin in FM than in dermal mucinoses, which could indicate that mucin in dermal and follicular epithelial mucinoses have different origins.
OBJECTIVE: A retrospective study characterizing PCM to compare dermal with follicular mucin to identify its potential origin on a single-cell level.
METHODS: Patients diagnosed with PCM between 2010 and 2020 at our department were included in this study. Biopsy specimens were stained using conventional mucin stains (Alcian blue, PAS) and MUC1 immunohistochemical staining. Multiplex fluorescence staining (MFS) was used to investigate which cells were associated with MUC1 expression in select cases.
RESULTS: Thirty-one patients with PCM were included, 14 with follicular mucinosis (FM), 8 with reticular erythematous mucinosis, 2 with scleredema, 6 with pretibial myxedema and one patient with lichen myxedematosus. In all 31 specimens, mucin stained positive for Alcian blue and negative for PAS. In FM, mucin deposition was exclusively found in hair follicles and sebaceous glands. None of the other entities showed mucin deposits in follicular epithelial structures. Using MFS, all cases showed CD4+ and CD8+ T cells, tissue histiocytes, fibroblasts and pan-cytokeratin+ cells. These cells expressed MUC1 at different intensities. MUC1 expression in tissue histiocytes, fibroblasts, CD4+ and CD8+ T cells, and follicular epithelial cells of FM was significantly higher than the same cell types in the dermal mucinoses (p < 0.001). CD8+ T cells were significantly more involved in expression of MUC1 than all other analysed cell types in FM. This finding was also significant in comparison with dermal mucinoses.
CONCLUSIONS: Various cell types seem to contribute to mucin production in PCM. Using MFS, we showed that CD8+ T cells seem to be more involved in the production of mucin in FM than in dermal mucinoses, which could indicate that mucin in dermal and follicular epithelial mucinoses have different origins.
摘要：
背景：原发性皮肤粘液病（PCM）是罕见的疾病，其特征是真皮或毛囊粘蛋白沉积。
目的：一项以PCM为特征的回顾性研究，以比较真皮与毛囊粘蛋白，以确定其在单细胞水平上的潜在起源。
方法：本研究包括2010年至2020年在我们科室诊断为PCM的患者。活检标本使用常规粘蛋白染色剂（阿尔辛蓝，PAS）和MUC1免疫组化染色。在某些情况下，使用多重荧光染色（MFS）来研究哪些细胞与MUC1表达相关。
结果：包括31例PCM患者，14患有滤泡黏液病（FM），8伴有网状红斑黏液病，2与scleredema，胫骨前黏液水肿6例，黏液性苔藓1例。在所有31个标本中,粘蛋白对阿尔辛蓝染色阳性，对PAS染色阴性。在FM中,粘蛋白沉积仅在毛囊和皮脂腺中发现。其他实体均未在滤泡上皮结构中显示粘蛋白沉积。使用MFS，所有病例均显示CD4+和CD8+T细胞，组织细胞，成纤维细胞和泛细胞角蛋白+细胞。这些细胞以不同的强度表达MUC1。MUC1在组织细胞中的表达，成纤维细胞,CD4+和CD8+T细胞，FM的滤泡上皮细胞明显高于真皮粘液中的相同细胞类型（p<0.001）。与FM中所有其他分析的细胞类型相比,CD8+T细胞显著更多地参与MUC1的表达。这一发现与真皮粘液病相比也是重要的。
结论：各种细胞类型似乎有助于PCM中粘蛋白的产生。使用MFS，我们发现CD8+T细胞似乎更参与FM中粘蛋白的产生，这可能表明真皮和毛囊上皮粘液素有不同的起源。
目的：一项以PCM为特征的回顾性研究，以比较真皮与毛囊粘蛋白，以确定其在单细胞水平上的潜在起源。
方法：本研究包括2010年至2020年在我们科室诊断为PCM的患者。
结果：包括31例PCM患者，
结论：各种细胞类型似乎有助于PCM中粘蛋白的产生。
