3例朗格汉斯细胞组织细胞增生症随访报告

朗格汉斯细胞组织细胞增生症（Langerhanscellhistiocytosis,LCH）,是一组临床表现各异的综合征的总称,包括Hand．Schuller．Christian综合征（韩．薛．柯病,侵犯全身多个器官、慢性起病,具有骨质缺损、突眼和尿崩症三联症者）、Letterer—Siwi病（勒．雪病,侵犯全身多个器官,急性起病者）、嗜酸性肉芽肿（eosinophilicgranuloma）,局限于肺的孤立型病变,病情相对缓和者。其发病、临床症状及病变范围差异很大。1995年至今,我们所在科室曾诊治4例,其中1例的有关资料已另有报道。     

以中枢性尿崩为首发表现的朗格汉斯细胞组织细胞增生症的临诊应对

报道3例以中枢性尿崩为首发表现的朗格汉斯细胞组织细胞增生症(LCH)患者,总结其临床表现、实验室检查、影像学检查、病理结果、诊断过程和治疗反应。3例患者早期均以中枢性尿崩症起病,垂体磁共振成像(MRI)均表现为垂体柄增粗,垂体后叶正常高信号消失。2例患者表现为孤立性下丘脑-垂体病变,1例表现为垂体和甲状腺多系统受累。病理结果显示典型的朗格汉斯细胞,免疫组织化学示S-100、CD1a、Langerin阳性。LCH临床表现呈现明显的异质性,容易误诊和漏诊。确诊依赖病理结果,孤立性下丘脑-垂体病变活检难度较大,建议积极筛查其他器官增加活检概率。LCH导致的神经垂体损害通常需要终生激素替代治疗。     

朗格汉斯细胞组织细胞增生症二例临床分析

目的 探讨朗格汉斯细胞组织细胞增生症（LCH）的临床特征.方法 回顾分析2例LCH患者的临床资料并复习相关文献.结果 2例均为未成年男性患儿颅骨受累伴骨质破坏,1例为单发灶累及眶后壁导致突眼,另1例为多发灶导致额部及枕部多发包块,2例均经病理学证实为LCH（其中1例为嗜酸性肉芽肿）.第1例给予病灶切除术加放疗,第2例未行放化疗.结论 LCH是一种综合征,头颈部受累很常见,病灶定位于颅骨时可表现为头部包块、眼球突出等,临床上出现上述症状时应考虑LCH可能.确诊需要病理学及免疫组织化学证据.治疗根据临床表现及受累器官选择治疗方案.预后与受累器官数目和功能受损情况密切相关.     

小儿朗格汉斯细胞组织细胞增生症9例临床分析

目的提高小儿朗格汉斯细胞组织细胞增生症（LCH）的诊断与鉴别诊断水平。方法回顾性分析9例LCH患儿的临床资料,总结其症状、影像学表现及治疗。结果 9例患儿均以头部一过性软组织包块就诊,其中伴局部疼痛2例,突眼1例,咳嗽1例,乏力及低热3例,多尿1例;CT表现为局限性或多发性溶骨性骨质缺损,边界清晰,周围无破坏,伴有软组织肿块,MR示板障破坏累及颅骨内外板,伴软组织肿块,病变部位呈长T1长T2信号,增强后强化明显。9例经病理证实为LCH,术后3例辅以泼尼松＋长春新碱＋依托泊苷化疗6周,2例行局部放疗（36 GY/20 F）,随访3个月～10年,死亡1例,余8例预后良好,无复发。结论 LCH确诊需结合临床表现、影像学检查和病理活检;对以一过性头部软组织包块为首诊的小儿患者,要考虑到LCH的可能。     

肺朗格汉斯细胞组织细胞增生症1例

朗格汉斯细胞肉芽肿病是指朗格汉斯组织细胞增生性病变,以前包括在组织细胞增生症X中。最近研究表明朗格汉斯细胞肉芽肿病的主要病变是朗格汉斯细胞的克隆性增生。目前认为朗格汉斯组织细胞增生症更合适。肺朗格汉斯细胞组织细胞增生症（pulmonary Langerhans cell histocytosis,PLCH）为朗格汉斯组织细胞增生症的一种类型,可以原发肺部,也可是全身系统病变的一部分。     

肺朗格汉斯细胞组织细胞增生症

肺朗格汉斯细胞组织细胞增生症是一种较为罕见的疾病.由于朗格汉斯细胞异常增生、浸润导致肺部结节、囊样改变.最终导致肺纤维化.本病主要累及20～40岁的吸烟人群,病因不明,亦无特异性治疗.本文对近来关于该病的报道作一综述.     

婴儿朗格汉斯细胞组织细胞增生症侵犯十二指肠一例

朗格汉斯细胞组织细胞增生症多见于儿童,男性多见。南京医科大学附属儿童医院近期收治了1例反复红色皮疹并渐进增多伴发热患儿,皮疹压片、十二指肠活检发现朗格汉斯细胞,免疫组化提示Langerin、CD1α、S-100蛋白阳性,结合患儿既往存在皮肤、骨损伤,病程中出现反复呕吐,胃镜及活检提示十二指肠受累,最终诊断为朗格汉斯细胞组织细胞增生症（多灶、多系统型勒雪病）,考虑到多系统受累及预后差,转入血液科行长春花碱联合泼尼松治疗,随访15个月皮疹消退,症状改善,病情稳定。     

Successful treatment of Langerhans cell histiocytosis with 2-chlorodeoxyadenosine

Langerhans cell histiocytosis (LCH) is a rare disorder which frequently involves the lungs of affected adults. Recent evidence suggests it is a clonal neoplastic disorder. Prognosis in this disease is variable, but in its multisystem form or when associated with progressive respiratory dysfunction, prognosis is poor. Recent case reports and a phase II trial of the antimonocyte drug 2-chlorodeoxy-adenosine (2CDA) have described success in treating LCH. We used 2CDA to treat a young Australian man with LCH involving lungs and bone. A complete symptomatic remission was achieved with no evidence of recurrence some 5 years after completion of chemotherapy.     

郎格汉斯组织细胞增多症的消化系表现、诊断及治疗

郎格汉斯组织细胞增多症是一种少见的全身多系统受侵犯的组织细胞异常增生性疾病,常见受累部位为骨、皮肤、肺脏、骨髓、淋巴结等,除此之外,尚可侵犯肝脏、胆道及胃肠道等消化器官,临床表现与其他消化系统疾病相比缺乏特异性,故诊断难度较大,一旦郎格汉斯组织细胞增多症患者明确诊断消化系统受累,则需要系统性治疗,甚至是肝脏移植.本文综述郎格汉斯组织细胞增多症的消化系统表现,从而对其早期诊断及治疗提供帮助.     

Denosumab for the treatment of adult multisystem Langerhans cell histiocytosis

PurposeAn etiological treatment is currently lacking for Langerhans Cell Histiocytosis (LCH). Receptor activator of nuclear factor κB ligand (RANKL) appears to play a central role in the lesional immunological process inducing compensatory osteoprotegerin (OPG) activation. In a preliminary study we aimed to evaluate for the first time the use of denosumab, a RANKL inhibitor, as a targeted treatment strategy in LCH in order to support and enhance endogenous OPG action in order to control or alter the lesional immunological process.ProceduresTwo adult female patients with painful osteolytic bone lesions and concomitant pulmonary involvement received bimonthly denosumab 120 mg in a total of 4 doses.ResultsBoth patients reported an immediate pain relief within the first two weeks following the 1st dose of denosumab. One month following the last dose an almost full remission of the initial osteolytic and lung lesions was observed, although an apparent new bone lesion was detected in one patient that was treated with a single intralesional steroid injection. No adverse events were recorded throughout the treatment period. Both patients have no active disease 6 months following the last denosumab dose.ConclusionsDenosumab could be considered an effective treatment option in adults with multisystem LCH also exerting a significant analgesic effect in bone lesions, warranting further investigation.     

Differentiation of Langerhans cells in Langerhans cell histiocytosis

Langerhans cell histiocytosis (LCH) consists of lesions composed of cells with a dendritic Langerhans cell (LC) phenotype. The clinical course of LCH ranges from spontaneous resolution to a chronic and sometimes lethal disease. We studied 25 patients with various clinical forms of the disease. In bone and chronic lesions, LCH cells had immature phenotype and function. They coexpressed LC antigens CD1a and Langerin together with monocyte antigens CD68 and CD14. Class II antigens were intracellular and LCH cells almost never expressed CD83 or CD86 or dendritic cell (DC)-Lamp, despite their CD40 expression. Consistently, LCH cells sorted from bone lesions (eosinophilic granuloma) poorly stimulated allogeneic T-cell proliferation in vitro. Strikingly, however, in vitro treatment with CD40L induced the expression of membrane class II and CD86 and strongly increased LCH cell allostimulatory activity to a level similar to that of mature DCs. Numerous interleukin-10-positive (IL-10(+)), Langerin(-), and CD68(+) macrophages were found within bone and lymph node lesions. In patients with self-healing and/or isolated cutaneous disease, LCH cells had a more mature phenotype. LCH cells were frequently CD14(-) and CD86(+), and macrophages were rare or absent, as were IL-10-expressing cells. We conclude that LCH cells in the bone and/or chronic forms of the disease accumulate within the tissues in an immature state and that most probably result from extrinsic signals and may be induced to differentiate toward mature DCs after CD40 triggering. Drugs that enhance the in vivo maturation of these immature DCs, or that induce their death, may be of therapeutic benefit.     

Marrow transplantation for treatment of multisystem progressive Langerhans cell histiocytosis.

Langerhans cell histiocytosis (LCH) embraces disorders characterized by the presence of marrow-derived abnormal Langerhans cells. A small number of patients with multisystem disease, vital organ dysfunction and rapid disease progression are considered to have a poor prognosis despite various treatments. Antiproliferative and immunosuppressive therapy, in combination with marrow transplantation, could be the appropriate treatment for these poor-prognostic patients. Four patients with progressive LCH were treated with high dose chemotherapy and fractionated total body irradiation followed by either an allogeneic (n = 2) or autologous (n = 2) marrow graft. Two of them are alive and have been disease free for almost 2 and 4 years after marrow grafting, respectively. One of the two survivors is the recipient of an allogeneic and the other of an autologous marrow graft. Two patients died, one of intrapulmonary hemorrhage 14 days after transplantation with active disease at autopsy, and the other of relapse of the original disease 355 days after marrow grafting. For patients with multisystem progressive LCH, allogeneic and autologous marrow transplantation may offer an opportunity for long-term remission and disease-free survival.     

Adult Langerhans cell histiocytosis

Langerhans cell histiocytosis (LCH) is a proliferative histiocytic disorder of unknown cause originating from dendritic cells. The clinical presentation of LCH is highly variable. Although the features of this disease have been well described in children, they remain poorly defined in adults. Here, we review the current knowledge about adult LCH, focussing on clinical presentation, diagnosis, treatment, and prognosis.