Abstract:
Erdheim Chester disease (ECD) is a rare and complex non-Langerhans histiocytic systemic disease that affects multiple organ systems, including the bones, heart, lungs, and central nervous system. Fewer than 1,000 cases have been reported in the medical literature and dermatological manifestations of the disease are rare but can provide valuable diagnostic clues for this challenging disease. The cutaneous manifestations of ECD can take many forms, including nodules, plaques, papules, and xanthomas. These lesions can occur on any part of the body and may be solitary or multiple. Cutaneous manifestations of ECD have been reported to occur in up to 20% of cases, but the true prevalence may be higher, as many cases may go undiagnosed. We present the case of a 62-year-old gentleman with a history of ECD currently on vemurafenib who presented with multiple painless subcutaneous nodules on his back after an excision biopsy under local anesthetic revealed histological features of ECD. The objective of this case report is to raise awareness of ECD and its dermatological manifestations. Further research is warranted to better understand the pathogenesis and morphology of cutaneous involvement in ECD.
摘要:
ErdheimChester病(ECD)是一种罕见且复杂的非朗格汉斯组织细胞系统疾病,可影响多器官系统,包括骨头,心,肺,和中枢神经系统。医学文献中报道的病例不到1,000例,该病的皮肤病学表现很少见,但可以为这种具有挑战性的疾病提供有价值的诊断线索。ECD的皮肤表现可以采取多种形式,包括结节,斑块,丘疹,和黄色瘤.这些病变可发生在身体的任何部位,可能是单发或多发。据报道,多达20%的病例发生ECD的皮肤表现,但是真正的患病率可能更高,因为许多病例可能无法确诊。我们介绍了一名62岁的绅士,该绅士目前在vemurafenib上有ECD病史,他在局部麻醉下进行切除活检后,背部出现了多个无痛皮下结节,揭示了ECD的组织学特征。本病例报告的目的是提高对ECD及其皮肤病学表现的认识。需要进一步的研究以更好地了解ECD中皮肤受累的发病机理和形态。