Rare Onset of Erdheim-Chester Disease in Children and Young Adults: A Case Series and Review of the Literature.

INTRODUCTION: Erdheim-Chester disease (ECD) is a rare histiocytic neoplasm that affects patients, predominantly males aged 40-70 years, with very heterogeneous clinical presentation and prognosis. In 2020, Goyal et al. proposed consensus recommendations for the management of patients with ECD, remarking on the exceptional presentation of the disease in the pediatric population. CASE PRESENTATION: The first patient, a 20-year-old male, underwent cervical laminectomy and partial removal of a cervical spine lesion, initially apparently consistent with cervical schwannomas. The second patient, a 9-year-old female, received surgery for an extra-axial lesion of the greater sphenoid wing, radiologically consistent with a meningioma. CONCLUSION: At present, 15 pediatric cases have been reported in the literature with involvement of the central nervous system, with no consensus on the diagnostic and therapeutic management, as Pegoraro et al. evidenced in their pediatric multicenter case series. The present article adds two new cases of ECD with onset in childhood and young adulthood, who received the diagnosis after neurosurgical procedures.

Left Ureterocalycostomy With Ileal Interposition for Retroperitoneal Fibrosis in Patient With Erdheim-Chester Disease.

BACKGROUND: Erdheim-Chester disease (ECD) is a rare progressive non-Langerhans' cell histiocytic multisystem disorder with a broad spectrum of clinical manifestations, including infiltrative perinephric with ureteral involvement resulting in hydronephrosis, renal atrophy, and eventual renal failure. OBJECTIVE: To present a patient with ECD with bilateral renal/ureteral involvement managed with bilateral percutaneous nephrostomy tubes (PCNT) and trametinib who underwent bilateral robotic upper tract reconstruction, the first such published report. The video demonstrates only the left-sided repair, which posed specific challenges and demonstrates reconstructive techniques useful in complex upper tract repairs with limited tissue availability. MATERIALS AND METHODS: A 35-year-old male initially presented with baseline creatinine of 1.62 and split renal function; 30% right and 70% left by Lasix renogram. Extra-genitourinary manifestations of disease included cardiac hypertrophy and skin ulcers/lesions. Bilateral retrograde pyeloureterography showed proximal ureteral obliteration ∼4 cm bilaterally. Multiple management options were discussed including PCNTs, but patient elected for definitive repair. He was seen by Cardiology and Anesthesia and deemed to be optimized. He held his trametinib for 1week before surgery. We demonstrate a difficult ureteral dissection with fibrotic hilum preventing separation. Simultaneous ureteroscopy identified the distal extent of stricture which was excised, leaving a ∼15 cm gap. Downward nephropexy was performed with ultrasound guidance to identify an inferior calyx. Partial nephrectomy was then performed without vascular control due to hilar fibrosis. Ileal interposition was chosen to bridge the remaining ∼8 cm gap. Proximal ileo-calyceal and distal ileo-ureteral anastomoses were performed. We then placed a 30 cm × 7 Fr double-J ureteral stent in standard fashion. The ileum was secured to the renal pelvis to maintain a straight lie and an omental flap was secured in place. RESULTS: Immediate postoperative course was complicated by partial small bowel obstruction leading to a negative exploratory laparotomy and a subsequent episode of urosepsis. The patient is now voiding well without stents or PCNTs, without infections and with improving renal function, now with GFR (glomerular filtration rate) of 62 from 43 preoperatively. With aggressive hydration, patient has had no obstruction of the distal ureter with mucus. MRI Abdomen/Pelvis 6months later showed irregularity of the calyces with stable mild hydronephrosis. The patient continues to be medically managed on trametinib for his underlying disease, with surveillance for recurrent fibrosis and obstruction which has not yet occurred. CONCLUSION: Robotic ureterolysis and ureterocalycostomy with possible bowel interposition is a reasonable option for upper tract reconstruction in select patients with ECD.

A case of Erdheim-Chester disease with the BRAF V600E mutation diagnosed via endoscopic sinus surgery.

Erdheim-Chester disease is characterized by the infiltration of foamy histiocytes in tissues. Lesional tissue biopsy is recommended to confirm diagnosis and establish the BRAF mutational status. A 52-year-old man presented to our hospital with hydronephrosis. Computed tomography showed enhancement of soft shadows around the left renal pelvis transition area and the aorta. He was treated with prednisolone 0.2 mg/kg for 1 year; however, no improvement was observed. 18Fluorodeoxyglucose-positron emission tomography/computed tomography revealed increased fluorodeoxyglucose uptake in various body parts, including the maxillary sinuses, indicative of Erdheim-Chester disease. He refused further examination, and the maxillary sinus lesions were treated with antibiotics and intranasal steroids, but no improvement was observed. Two years later, he underwent biopsy with endoscopic sinus surgery of the maxillary sinus, which showed the highest increase in fluorodeoxyglucose uptake on repeat 18fluorodeoxyglucose-positron emission tomography/computed tomography. Endoscopic findings showed only nonspecific inflammatory findings, but pathological findings revealed the proliferation of cells with abundant foamy cytoplasms. Sufficient tumor volume was available to perform PCR for BRAF V600E mutation analysis, which was positive and resulted in a diagnosis of Erdheim-Chester disease with the BRAF V600E mutation. This is the first case of a patient with Erdheim-Chester disease with the BRAF V600E mutation identified in a sinus lesion. Endoscopic sinus surgery biopsy of the paranasal sinuses was considered to contribute to the histological and genetic diagnosis of Erdheim-Chester disease, particularly following the notable increase in fluorodeoxyglucose uptake.

Afectación corneal debido a enfermedad de Erdheim-Chester / Corneal involvement due to Erdheim-Chester disease

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Erdheim-Chester disease mimicking lumbar nerve schwannoma: case report and literature review.

Introduction: Erdheim-Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis. The clinical spectrum of ECD is diverse, varying from asymptomatic focal lesion to life-threatening multisystem infiltration. Neurological manifestations of ECD are common, mostly due to the involvement of the central nerve system. However, spinal nerve or peripheral nerve involvement has rarely been mentioned. Case presentation: Herein, we present a case of a 32-year-old female patient complaining about radiating pain on the front and lateral side of her left thigh for 2 months. Spinal MRI with contrast enhancement showed a space-occupying lesion on the left L3/L4 intervertebral foramen, indicating an initial diagnosis of lumbar nerve schwannoma. The patient underwent surgery to remove the mass and decompress the lumbar nerve. Postoperative histological examination revealed the diffuse infiltration of foamy histiocytes that were CD68+, CD163+, and CD1a- on immunostaining, which confirmed the diagnosis of Erdheim-Chester disease. The radiating pain was gradually alleviated and PET-CT was performed but showed no further involvement of ECD. Discussion: To the best of our knowledge, this is the first case of ECD demonstrated as an infiltrative mass on the spinal nerve, with imaging manifestations and compression symptoms similar to those of peripheral nerve schwannoma.

[Preliminary study on surgical treatment of Erdheim-Chester disease].

Objective: To summarize the preliminary effectiveness of surgical treatment of Erdheim-Chester disease (ECD), so as to improve the understanding of the disease by orthopedic surgeons. Methods: The clinical data of 9 patients with ECD between December 2012 and October 2017 were retrospectively analysed. There were 6 males and 3 females with an median age of 42 years (range, 8-61 years). The disease duration was 4-59 months (mean, 39 months). There were 2 cases of multiple lesions, including 1 case involving soft tissue of the buttocks and bilateral tibia, 1 case involving the sinus, skull base, and proximal right tibia; 7 cases with single lesion, including 3 cases of right femoral neck, 1 case of proximal right tibia, 1 case of right humerus, and 2 cases of ribs. Nine patients were diagnosed according to clinical manifestations, imaging examination, and pathological diagnosis. Four patients underwent needle biopsy before operation and 5 patients were diagnosed by postoperative pathology examination. Five cases underwent lesional scraping and internal fixation, 1 case underwent bone scraping and bone grafting, and 3 cases underwent lesion resection. One of the multiple lesions was treated with interferon and hormone. Results: Nine patients underwent the surgery safely. There was no fever, wound exudation, infection, etc., and the incisions healed by first intention. All the patients were followed up 4-59 months with an average of 31.4 months. One patient with bilateral tibia and hip soft tissue involvement continued to receive medical treatment, and the tumor was controlled without significant increasing. The remaining 8 patients were examined for X-ray films at 3, 6, and 12 months after surgery, the bone has been fused and the steel plate and intramedullary nail were firmly fixed, and no tumor recurrence was observed. At 1 year after surgery, the pain symptoms of the patients improved and returned to normal life; 3 of them who involving the right femoral neck walked freely, and the quality of life improved significantly. Conclusion: ECD patients can achieve the purpose of eliminating lesions and relieving pain after surgical treatment, and the surgical treatment has the advantages of quick relief of pain, improved quality of life, small side effects, and low economic cost when compared with medical treatment.

Spontaneous Bilateral Pneumothoraces in Erdheim-Chester Disease / Neumotórax bilateral espontáneo en un caso de enfermedad de Erdheim-Chester

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A possible case of Erdheim-Chester Disease.

Aim: To present the case of a 57-year-old male with progressive bilateral proptosis. Material and method: The patient presented with bilateral proptosis and strength deficiency on the upper limbs. During hospitalization, the progression was unfavorable; proptosis progressed, causing a severe loss of vision in the left eye (from 0.8 Snellen to NLP). Results: The imagistic investigation revealed bilateral infiltration of the orbits, infiltrative lesions to the mediastinum and the abdomen. The patient was referred to neurosurgery for further management. Surgical orbital decompression was performed with biopsy. The histopathological examination revealed non-Hodgkin small cell lymphoma. Conclusions: Assembling the clinical and paraclinical data we have suspected the possible diagnosis of Erdheim-Chester disease, however, positive diagnosis has not been achieved.

Erdheim-Chester disease involving the breast--a rare but important differential diagnosis.

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis characterized by multisystem infiltration by foamy histiocytes surrounded by fibrosis. ECD often involves the long bones, skin, and retroperitoneum, whereas breast involvement is very rare with only 6 reported cases in English literature. We report a case of ECD presenting within the right breast as a clinically malignant tumor, in addition to bilateral sclerotic lesions of the femurs, bilateral soft tissue masses of the cerebellum, and multiple subcutaneous nodules on the abdominal wall in a 61-year-old woman. Histologically, there was a prominent infiltrate of foamy histiocytes with scattered Touton-type giant cells, lymphocytes, and plasma cells. The foamy histiocytes were arranged in small clusters or scattered singly in the background of fibrosis. However, in some areas, there was a prominent proliferation of fibrosis with scant cellular infiltrate including histiocytes. The diagnosis of ECD was made by characteristic histopathologic features in addition to clinical-radiographic features and the typical immunoprofile (positive for cluster of differentiation 68 [CD68], CD163, and p16; negative for CD1a and S-100). Although rare, ECD must be considered in the differential diagnosis of clinically malignant tumor of the breast. To our knowledge, this is the second case of ECD involving the breast in which a valine 600 glutamic acid mutation was detected, which probably represents a clonal disorder of non-Langerhans cells.

Gastrointestinal Erdheim-Chester disease.

We report a rare case of Erdheim-Chester Disease, a non-Langerhans cell histiocytosis. A 60-year old female presented with a seven-month history of vague abdominal symptoms. A large retroperitoneal mass was detected on computed tomography (CT), but multiple CT-guided biopsy samples were inconclusive. Laparoscopy revealed a mass in the distal ileum, which was resected. Histology and immuno-histochemistry supported a diagnosis of Erdheim-Chester Disease.

Visualization of orbital involvement of Erdheim-Chester disease on PET/CT.

We report a 58-year-old man who presented with swelling and redness in his left eye, headache, and blurred vision. A contrast-enhanced CT of the orbits revealed bilateral orbital masses. Whole-body PET/CT showed bilateral retrobulbar hypermetabolic soft tissue lesions, multiple areas of soft tissue involvement, and osseous lesions in bilateral lower extremities. An open surgical biopsy of the left orbital mass revealed xanthomatous non-Langerhans histiocytic infiltrate with Touton giant cells, positive for CD68 but negative for CD1a, establishing a diagnosis of Erdheim-Chester disease.

Erdheim-Chester disease with an 18F-fluorodeoxyglucose-avid breast mass and BRAF V600E mutation.

Erdheim-Chester disease (ECD) is a non-Langerhans cell histiocytosis. Herein we report a case of a 49-year-old woman who developed bilateral knee pain. Imaging procedures revealed multiple long bone lesions and a well-defined 18F-fluorodeoxyglucose-avid mass in the left breast. The breast mass was resected, and an open biopsy was performed on the right femoral lesion. Both specimens revealed involvement by histiocytic infiltrates with features suggestive of ECD. The BRAF V600E mutation was detected by DNA sequencing and immunohistochemistry.

Unusual orbital involvement in Erdheim Chester disease: a radiological diagnosis.

Erdheim-Chester disease (ECD) is an exceedingly rare, disseminated non-Langerhan cell histiocytosis with multisystem involvement, having characteristic sclerotic skeletal lesions. We present an unusual case primarily manifesting as an extensive orbital disease, with low-grade systemic involvement. Owing to its rarity and therefore lack of general awareness it remains a difficult clinical and pathologic diagnosis. Immuno-histochemistry of the biopsy specimen is diagnostic.

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.

Polyostotic sclerosing histiocytosis (Erdheim-Chester disease) treated with combined vertebroplasty and radiation therapy.

Erdheim-Chester disease is an uncommon form of non-Langherans-cell histiocytosis, with a heterogeneous range of systemic manifestations and a pattern of typical clinico-pathological and radiological features. Symmetric sclerotic radiological alterations of the long bones are peculiar, such as the infiltration of several organs by lipid-laden histiocytes. Radiation therapy has been anecdotally employed in a palliative setting in order to relieve symptoms mainly due to cerebral, retro-orbital and skeletal localizations. Exclusive osseous involvement is rarely described in the medical literature. Moreover, the role, timing and schedule of radiotherapy in this subset of patients remain controversial. We herein report on a case of osseous-only Erdheim-Chester disease treated with a combined modality approach including transoral vertebroplasty and external beam radiation therapy, which gave an analgesic effect that lasted 1 year, with no treatment-related side effects.

Surgical treatment of intracranial Erdheim-Chester disease.

We review the clinical presentation, radiological and histological characteristics, and the natural history, of intracranial Erdheim-Chester disease (ECD). ECD is a rare form of non-Langerhans histiocytosis that affects multiple organs. It is clinically characterized by leg pain, exophthalmos and diabetes insipidus (DI). Central nervous system involvement is rare, with only 27 patients reported in the international literature. DI and cerebellar signs represent the most common neurological symptoms. Its treatment is controversial. Intracranial surgical procedures for ECD have been reported in 11 patients with a complete surgical resection performed in six, and an intracerebral biopsy performed in five patients. In seven patients the cranial procedures represented the initial diagnostic method. Surgical resection and radiation therapy have been used in the further management of these cerebral lesions.

[Histiocytic disorders with orbital involvement]. / Tumeurs histiocytaires de l'orbite.

The eosinophilic granuloma of bone is the most common type of histiocytic disorder involving the orbital area. Imaging data typically show bony defects with an intra-orbital soft-tissue extension. Surgical debulking is most often required. Rosai-Dorfman disease is commonly associated with uni- or bilateral orbital locations. The other histiocytic disorders are very rare, but some have a poor prognosis such as Erdheim-Chester disease.