BACKGROUND Langerhans cell histiocytosis(LCH)is a rare condition wherein Langerhans cells proliferate abnormally,adversely impacting organs including lymph nodes,bones,skin,lungs,and pituitary gland.The LCH disease co...BACKGROUND Langerhans cell histiocytosis(LCH)is a rare condition wherein Langerhans cells proliferate abnormally,adversely impacting organs including lymph nodes,bones,skin,lungs,and pituitary gland.The LCH disease course varies widely among patients from a self-limiting condition to one that progresses rapidly and culminates in death.It is uncommon for multisystem LCH to be observed in adults.Herein we describe a woman suffering from multi-system LCH involvement.CASE SUMMARY A 37-year old Chinese woman was admitted to the hospital in June 2019 suffering from dyspnea that had progressed over the course of 5 years.Her medical history included:central diabetes insipidus(DI)that had been treated via radiotherapy,desmopressin acetate,and bromocriptine;bilateral pneumothorax with two surgeries having been performed to remove bullae;and autoimmune hepatitis that had been unsuccessfully treated using a combination of methylprednisolone and mycophenolate mofetil.A chest computed tomography(CT)scan revealed the presence of multiple pulmonary cysts of varying sizes.We re-analyzed right pulmonary bullae samples that had been removed in 2014,performed a systematic 18 F-FDG PET/CT analysis,and convened a multidisciplinary medical team to diagnose and treat this patient.As a result,we were able to eventually diagnose this patient with LCH that was not associated with BRAF-V600 E mutations.CONCLUSION We hope to emphasize the importance of systemic evaluation and of cooperation between multidisciplinary physicians with the goal of improving awareness and detection of this orphan disease.展开更多
文摘BACKGROUND Langerhans cell histiocytosis(LCH)is a rare condition wherein Langerhans cells proliferate abnormally,adversely impacting organs including lymph nodes,bones,skin,lungs,and pituitary gland.The LCH disease course varies widely among patients from a self-limiting condition to one that progresses rapidly and culminates in death.It is uncommon for multisystem LCH to be observed in adults.Herein we describe a woman suffering from multi-system LCH involvement.CASE SUMMARY A 37-year old Chinese woman was admitted to the hospital in June 2019 suffering from dyspnea that had progressed over the course of 5 years.Her medical history included:central diabetes insipidus(DI)that had been treated via radiotherapy,desmopressin acetate,and bromocriptine;bilateral pneumothorax with two surgeries having been performed to remove bullae;and autoimmune hepatitis that had been unsuccessfully treated using a combination of methylprednisolone and mycophenolate mofetil.A chest computed tomography(CT)scan revealed the presence of multiple pulmonary cysts of varying sizes.We re-analyzed right pulmonary bullae samples that had been removed in 2014,performed a systematic 18 F-FDG PET/CT analysis,and convened a multidisciplinary medical team to diagnose and treat this patient.As a result,we were able to eventually diagnose this patient with LCH that was not associated with BRAF-V600 E mutations.CONCLUSION We hope to emphasize the importance of systemic evaluation and of cooperation between multidisciplinary physicians with the goal of improving awareness and detection of this orphan disease.
