Langerhans cell histiocytosis (LCH) is a rare and unexplained disease that can involve in any organ or system in the body and displays a variety of clinical manifestations. A 31-year-old man, who had a more than 10-year smoke history, initially presented dry cough, polydipsia and diuresis, with recurrent spontaneous pneumothorax. Pulmonary high-resolution computed tomography showed diffuse cystic and nodular lesions. Langerhans cell histiocytosis was confirmed by a transbronchial cryobiopsy. The disease is involved in the lung, pituitary, thyroid, liver, lymph node, and skin. Glucocorticoid or systemic chemotherapy is commonly used in the treatment for this disease. BRAF gene mutation inhibitor is a new direction for the treatment.
朗格汉斯细胞组织细胞增生症是一种少见且病因未明的疾病，可以累及全身任何器官或系统，临床表现多样。1例31岁男性患者，有吸烟史，以干咳、多饮、多尿起病，期间多次出现自发性气胸，肺高分辨CT表现为弥漫性囊性及小结节病变，经冷冻肺活检诊断为朗格汉斯细胞组织细胞增生症。查找其他系统受累情况，发现肺、垂体、甲状腺、肝、淋巴结、皮肤受累。治疗多采用糖皮质激素或全身化学药物治疗，BRAF基因突变抑制剂是新的治疗方向。.
Keywords: Langerhans cell histiocytosis; diagnosis; multisystem; treatment.