Pulmonary involvement in Erdheim-Chester disease

Erdheim-Chester disease is a disseminated non-Langerhans' cell histiocytosis involving multiple organs with characteristic sclerotic musculoskeletal lesions. This is the report of the case of a 53-year-old woman with extensive and progressive pulmonary disease. Computed tomography scans revealed diffuse infiltrative lung disease. Thoracoscopic lung biopsy and a biopsy of the right femur lesion were performed. The histopathology revealed that she had non-Langerhans' cell histiocytosis; Erdheim-Chester disease. The characteristic lesions of Erdheim-Chester disease, including involvement of the orbit, pericardium, periaorta, and bone were detected. This helped to further confirm that the patient had Erdheim-Chester disease with associated pulmonary involvement. As Erdheim-Chester disease is a rare non-Langerhans' cell histiocytosis that may be misdiagnosed as interstitial lung disease or other pulmonary disorders, this diagnosis should be considered in the differential diagnosis of such lung lesions.     

Erdheim-Chester disease presenting with pneumothorax

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis most commonly characterized by symmetrical skeletal involvement and may present with pulmonary involvement leading to chronically progressive pulmonary symptoms. Characteristics on chest radiography include non-specific findings of diffuse interstitial and pleural thickening, micronodules, ground-glass opacities and parenchymal condensation as a result of infiltration by lipid-laden histiocytes. We present the case of a 50-year-old man with ECD presenting with acute pulmonary symptoms due to rupture of a large cystic lesion with resultant pneumothorax. He was brought by ambulance to our hospital, complaining of acute anterior chest pain and severe dyspnea. Chest radiography showed right-sided pneumothorax with a collapsed lung, a large, left-sided cystic lesion in the upper lung field and accentuated interstitial markings. Bullectomy and surgical biopsy were performed, demonstrating histologically histiocytic infiltrates that were strongly positive for CD68, but negative for S-100 protein and CD1a. Subsequent systemic examinations indicated widespread symmetrical skeletal involvement, leading to a definitive diagnosis of ECD.     

Postoperative cardiac homograft involvement in Erdheim-Chester disease

Erdheim-Chester disease (ECD) is a rare multisystem disorder which is known to affect the skin, lungs, bone, pituitary gland, retroperitoneum and cardiovascular system. The case is described of a patient with ECD who had previously undergone a Ross procedure for presumed endocarditis involving the aortic valve and aortic root. The patient subsequently developed arthralgias, abdominal pain (requiring an exploratory laparotomy) and polydipsia. Furthermore, he developed progressive, symptomatic stenosis of the pulmonic homograft. A reoperative replacement of the homograft was required. The clinically suspected diagnosis of ECD was confirmed by a pathologic analysis of the explanted pulmonary homograft, and also (retrospectively) of previously resected mesenteric tissue. It is postulated that the patient may have developed ECD as a result of an immunologic reaction to the homograft tissue used for the Ross procedure.     

Erdheim-Chester disease with interatrial septum involvement

Erdheim-Chester disease is an uncommon non-Langerhans cell histiocytosis with systemic manifestations. Most cases discuss radiologic findings once a pathologic diagnosis has already been established. We describe a patient with symptoms and no previously known diagnosis who was imaged with computed tomography, magnetic resonance imaging, and positron emission tomography. This case is unusual in that radiologic imaging demonstrated interatrial septum and diffuse cardiac involvement, in addition to the other characteristic lesions of Erdheim-Chester disease. The importance of this case to the radiologist is the expansion of the differential diagnosis of processes involving the interatrial septum and retroperitoneum.     

Erdheim-Chester disease in a female cardiac surgery patient

We report a case of Erdheim-Chester disease (ECD) with isolated cardiac involvement in a 74-year-old female patient. The patient initially presented with superior vena cava syndrome and PET-CT imaging demonstrating an obstructing hypermetabolic lesion in the right atrium, and a distinct nonobstructing hypermetabolic lesion in the left atrium, expected to be malignant. There was no evidence of extracardiac disease. At surgical exploration, consistent with malignancy, the right atrial tumor was found to have grown into the pericardium and was resected to address symptoms and for histological diagnosis which revealed ECD on immunohistochemistry. We conclude that isolated cardiac ECD should be included in the surgical strategy for cardiac tumors showing infiltrative growth.     

Erdheim-Chester disease presenting with pulmonary lesion]

A 49-year-old man first visited our hospital in 1991 for further examination of abnormal pulmonary shadows. A chest radiograph and computed tomographic (CT) scan showed diffuse reticular shadows in both lung fields. The findings from a transbronchial lung biopsy specimen were not conclusive. Although there was little change in the abnormal pulmonary shadows, the patient's lung functions gradually deteriorated, indicating an obstructive defect. The patient was admitted in 1998 with the chief complaint of increasing dyspnea on exertion. A thoracoscopic lung biopsy specimen revealed proliferation of histiocytes with fibrosis in the pleura and perivascular interstitium. Immunohistochemically, the histiocytic cells were CD68-positive, alpha 1-antichymotripsin-positive, S100 protein-negative, and CD1a-negative. A bone scintigram and magnetic resonance images showed symmetrical diametaphyseal bone lesions in the distal femurs and the proximal tibiae; however, the epiphyses were spared. These findings were consistent with Erdheim-Chester disease. This is the first reported case of Erdheim-Chester disease with pulmonary involvement in Japan.     

Sinonasal and ear manifestations of Erdheim-Chester disease

To calculate the prevalence of sinonasal and ear involvement in an Erdheim-Chester disease (ECD) population, to describe the different ear, nose and throat (ENT) manifestations and to study the association between ENT involvement, other organ involvement, and BRAF mutations. We led a retrospective monocentric study in the national referral center for ECD. One hundred and sixty-two patients with ECD and ENT data were included between January 1, 1980 and December 31, 2020. Ear and nose clinical and radiological findings were noted. We described and studied the prevalence of ENT involvement in ECD population. The association between sinonasal and ear involvement, other organ involvement, and BRAF mutations was calculated. The prevalence of ENT manifestations is around 45%. No clinical rhinologic or otologic signs were specific to ECD. Sinus imaging was abnormal in 70% of cases. A bilateral maxillary sinus frame osteosclerosis was highly specific of ECD. Associations were found between the sinus MRI imaging type and BRAF status, central nervous system involvement, cerebellum involvement and xanthelasma. Sinonasal or ear involvement is frequent in ECD and has specific imaging features for sinuses. Trial registration: #2011-A00447-34.     

Aggressive and atypical manifestations of Erdheim-Chester disease

Erdheim–Chester disease (ECD) is a disseminated non-Langerhans cell histiocytosis with multisystem involvement, including characteristic sclerotic musculoskeletal lesions. We present the case of a 27-year-old woman with a fulminant course and atypical involvement by ECD manifesting as extensive cerebrovascular disease and lytic musculoskeletal lesions. This case represents an unusual and aggressive presentation of ECD owing to the patients young age, the severity of the cerebrovascular involvement and the lytic osseous lesions.Abbreviations ECD Erdheim-Chester disease - DI Diabetes insipidus - GFAP Glial fibrillary acidic protein - PAS Periodic acid–Schiff - AFB Acid-fast bacilli - GMS Gomori methenamine silver - LCH Langerhans cell histiocytosis