Abstract：
Juvenile xanthogranuloma (JXG) is usually identified by Touton giant cells, so their absence can complicate diagnosis. We encountered a case of non-typical neonatal JXG lacking Touton giant cells, which was difficult to differentiate from aleukemic leukemia cutis because of overlapping histopathological characteristics. A 1 month-old girl presented with a blueberry muffin rash and multiple 1-2 cm nodules within the subcutaneous and deeper soft tissues. Blood tests revealed pancytopenia. The initial nodule biopsy showed mononuclear cell infiltration, suggestive of mature monocytes or histiocytes, but no Touton giant cells. Bone marrow examination showed no evidence of leukemia. Despite worsening of the rash, pancytopenia, and weight gain over the following month, the results of the second biopsy remained consistent with the initial findings. Consequently, we provisionally diagnosed aleukemic leukemia cutis and initiated chemotherapy. After two courses of chemotherapy, the pancytopenia improved, but the nodules only partially regressed. A third biopsy of the nodule was performed to evaluate the histological response, and revealed Touton giant cells, confirming the diagnosis of JXG. In conclusion, distinguishing non-typical JXG from aleukemic leukemia cutis is challenging. This case highlights the importance of multiple biopsies and the potential for histopathological maturation.
摘要：
青少年黄色肉芽肿（JXG）通常由Touton巨细胞鉴定，所以他们的缺席会使诊断复杂化。我们遇到了一个非典型新生儿JXG缺乏Touton巨细胞的病例，由于重叠的组织病理学特征，很难与白血病表皮细胞区分开。1个月大的女孩在皮下和较深的软组织内出现蓝莓松饼皮疹和多个1-2厘米结节。血液检查显示全血细胞减少症。最初的结节活检显示单核细胞浸润，提示成熟单核细胞或组织细胞，但没有Touton巨细胞.骨髓检查显示没有白血病的证据。尽管皮疹恶化，全血细胞减少症,在接下来的一个月里体重增加，第二次活检的结果与最初发现一致.因此,我们暂时诊断为白血病，并开始化疗。经过两个疗程的化疗,全血细胞减少症得到改善,但结节只是部分消退。对结节进行了第三次活检以评估组织学反应，揭示了图顿巨细胞，确认JXG的诊断。总之,区分非典型性JXG与白血病是一项挑战.该病例强调了多次活检的重要性和组织病理学成熟的潜力。
