Department of Endocrinology, Tongji Hospital, Huazhong University of Science and Technology, Wuhan, China.
Front Endocrinol (Lausanne). 2022 Jul 22;13:896227. doi: 10.3389/fendo.2022.896227. eCollection 2022.
Langerhans cell histiocytosis (LCH) is a rare disease characterized by the clonal accumulation and/or proliferation of specific dendritic cells resembling normal epidermal Langerhans cells (LCs). Clinical manifestations are variable, depending on the affected tissues or organs, however, LCH with elevated serum IgG4 has not been reported. Herein, we reported a 26-year-old Chinese female multi-system LCH (MS-LCH) who first presented with central diabetes insipidus (CDI), accompanied by panhypopituitarism and hepatic dysfunction. Diagnostic investigations were strongly suspicious of IgG4-RD because of elevated serum IgG4 levels during the process. Furtherly, thyroid and lymph node involvement and biopsy led to the diagnosis of MS-LCH; the strongly positive staining of CD1a, S100, CD207 (langerin), and Ki67 was found. Moreover, after systemic treatment with five cycles of chemotherapy, many lesions were greatly improved. Since both LCH and IgG4-RD are orphan diseases that can affect any organ, the differential diagnosis is challenging, especially when LCH is associated with unexplained serum IgG4 elevation. In this article, the case of a young woman suffering from MS-LCH that affected organs including the pituitary, thyroid, lymph node, and liver was summarized, and relevant literature was reviewed to better equip the diagnosis and treatment in its early stages.
朗格汉斯细胞组织细胞增生症(LCH)是一种罕见的疾病,其特征是特定树突状细胞的克隆性积聚和/或增殖,类似于正常表皮朗格汉斯细胞(LCs)。临床表现因受影响的组织或器官而异,然而,尚未报道伴有血清 IgG4 升高的 LCH。在此,我们报告了一例 26 岁的中国女性多系统 LCH(MS-LCH)患者,她最初表现为中枢性尿崩症(CDI),伴有全垂体功能减退和肝功能障碍。由于在病程中血清 IgG4 水平升高,诊断性检查强烈怀疑 IgG4-RD。进一步的甲状腺和淋巴结受累及活检导致了 MS-LCH 的诊断;CD1a、S100、CD207(朗格汉斯细胞)和 Ki67 的强烈阳性染色被发现。此外,经过五个周期的化疗全身治疗后,许多病变得到了很大改善。由于 LCH 和 IgG4-RD 都是可以影响任何器官的孤儿病,因此鉴别诊断具有挑战性,特别是当 LCH 伴有不明原因的血清 IgG4 升高时。本文总结了一例年轻女性患有 MS-LCH 的病例,该患者的病变累及垂体、甲状腺、淋巴结和肝脏等器官,并回顾了相关文献,以更好地在早期进行诊断和治疗。