Cyr Janelle, Langley Annie, Demellawy Dina El, Ramien Michele
Division of Dermatology, University of Toronto, Ottawa, ON, Canada.
Division of Dermatology, The Ottawa Hospital, Ottawa, ON, Canada.
SAGE Open Med Case Rep. 2020 May 27;8:2050313X20919616. doi: 10.1177/2050313X20919616. eCollection 2020.
In our case report, we discuss a 1-day-old boy presenting with blueberry muffin syndrome diagnosed with Langerhans cell histiocytosis. The diagnosis complicated by an initial difficult-to-interpret biopsy showing only a hint of perifollicular CD1a-positive cells; however, given our team's strong clinical suspicion of Langerhans cell histiocytosis, a second biopsy of a more mature lesion was done and showed typical histopathology. This case introduces the possibility of perifollicular Langerhans cells early in this condition, demonstrates the importance of appropriate biopsy site selection, and highlights the importance of maintaining a high degree of suspicion when there is poor clinicopathologic correlation. Our case report contains a comprehensive table which reviews the systemic and cutaneous clinical features, as well as the laboratory, pathology, and imaging findings for the differential diagnoses of blueberry muffin baby.
在我们的病例报告中，我们讨论了一名1日龄男婴，其表现为蓝莓松饼综合征，诊断为朗格汉斯细胞组织细胞增多症。诊断过程较为复杂，最初的活检结果难以解读，仅显示有少量滤泡周围CD1a阳性细胞；然而，鉴于我们团队对朗格汉斯细胞组织细胞增多症有强烈的临床怀疑，对一个更成熟的病灶进行了第二次活检，结果显示出典型的组织病理学特征。该病例介绍了在此病症早期出现滤泡周围朗格汉斯细胞的可能性，证明了选择合适活检部位的重要性，并强调了当临床病理相关性较差时保持高度怀疑的重要性。我们的病例报告包含一个综合表格，该表格回顾了蓝莓松饼样婴儿鉴别诊断的全身和皮肤临床特征，以及实验室、病理学和影像学检查结果。
