piperidines and Histiocytosis--Sinus

Destombes-Rosai-Dorfman disease (RDD) is a rare multisystemic histiocytosis. Pulmonary involvement during RDD has been poorly described. The goal of this study was to examine the clinical presentations, radiological features, and outcomes of 15 patients with RDD and lung involvement.. The cases of RDD with lung involvement were extracted from the French National Histiocytosis registry. Efficacy of the MEK inhibitor cobimetinib in treating lung disease was evaluated with an. Fifteen patients (six women; median age, 40 years at RDD diagnosis) were included. All patients had evidence of systemic disease with extrapulmonary localizations of the disease (lymphadenopathy [n = 12], skin [n = 9], bones [n = 6], retroperitoneal involvement [n = 3], sinuses [n = 3], parotid gland [n = 2], submandibular gland [n = 1], and breast [n = 1]). Presenting symptoms were dominated by dyspnea and dry cough in seven patients. Restrictive physiology was observed in two of five patients. BAL showed lymphocytosis in one of five cases. Eight patients received corticosteroids, all but one with variable immunosuppressive or immunomodulatory therapies. Two patients received cobimetinib for severe lung disease, with dramatic pulmonary metabolic and tumoral responses. Two patients died during follow-up: one of hemoptysis, and the other of an unrelated cerebral tumor.. Pulmonary involvement in RDD is rare, proteiform, and sometimes severe. The MEK inhibitor cobimetinib can lead to dramatic responses.

Topics: Adolescent; Adrenal Cortex Hormones; Adult; Aged; Aged, 80 and over; Azetidines; Bronchoalveolar Lavage Fluid; Cough; Dyspnea; Female; Fluorodeoxyglucose F18; France; Histiocytosis, Sinus; Humans; Immunosuppressive Agents; Lung; Lung Diseases; Lymphocytosis; Male; Middle Aged; Piperidines; Positron Emission Tomography Computed Tomography; Protein Kinase Inhibitors; Radiopharmaceuticals; Registries; Retrospective Studies; Young Adult

Rosai- Dorfman disease (RDD) is a rare systemic pseudo-lymphomatous disorder with unknown etiology. No guidelines exist regarding its management and treatment when the disease is progressing. Choroidal involvement in RDD has rarely been reported and has often been misdiagnosed. We describe a case of a 64-year-old male diagnosed with RDD by means of choroidal biopsy, successfully treated with a MEK inhibitor, namely Cobimetinib, and its follow-up over 5 years, with good final anatomical and functional results. This is the first reported case of RDD diagnosed with an intraocular biopsy performed on a non-enucleated globe, thus preserving the integrity and function of the eye. This case emphasizes the need for a choroidal biopsy when the diagnosis is not straightforward and the starting of targeted therapy to retain a good visual function.

Topics: Azetidines; Biopsy; Histiocytosis, Sinus; Humans; Male; Middle Aged; Piperidines