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The American Journal of Case Reports May 2024BACKGROUND Langerhans cell histiocytosis (LCH) is a rare and uncontrolled proliferation of dendritic cells of myeloid origin. The incidence of LHC was estimated at 5...
BACKGROUND Langerhans cell histiocytosis (LCH) is a rare and uncontrolled proliferation of dendritic cells of myeloid origin. The incidence of LHC was estimated at 5 cases per million children ages 0-15 years old. The most common places for this tumor are the jaw, vertebra, pelvis, and the extremities. The disease with multisystem involvement can present a mortality rate of 20% and one-third of children have multisystem involvement. We present a case with unusual bone involvement of the anterior cranial base with a challenging diagnosis and a complex surgical approach. CASE REPORT We report the case of a 6-year-old boy who manifested the disease with daily holocranial headache, worse in the frontal region and refractory to analgesia for 10 days, strabismus homonymous, diplopia, and right palpebral ptosis. The tumor affected the sphenoid sinus, internal carotid artery, and sella turcica, and made contact with the pituitary gland. A joint surgery with Otorhinolaryngology and Neurosurgery was performed by nasal endoscopic access to the skull base by means of the right medial turbinectomy (for the access) and right sphenoid opening, septectomy and opening of the left sphenoid to work with 4 hands and, after resection of lesion, inside the sphenoid. CONCLUSIONS This patient had rare bone involvement from LCH and atypical clinical presentation next to the important and delicate structures of the anterior skull base, but had a satisfactory outcome.
Topics: Humans; Histiocytosis, Langerhans-Cell; Male; Sphenoid Sinus; Child
PubMed: 38764221
DOI: 10.12659/AJCR.942681 -
Medicine Feb 2022Rosai-Dorfman disease (RDD) is a rare, benign, self-limiting disease, also known as sinus histiocytosis with giant lymphadenopathy. Skeletal involvement is rare, and...
RATIONALE
Rosai-Dorfman disease (RDD) is a rare, benign, self-limiting disease, also known as sinus histiocytosis with giant lymphadenopathy. Skeletal involvement is rare, and this isolated bone lesion usually occurs in adults with no other symptoms. It is estimated that 0.6% to 1% of RDD cases have isolated or complicated spinal lesions, which may occur in the bone, dura, and spinal parenchyma, but spinal RDD has no pathologic clinical or imaging features.
PATIENT CONCERNS
A 25-year-old woman presented with complaints of low back pain without obvious causes for a month.
DIAGNOSIS
RDD with spinal involvement.
INTERVENTIONS
Resection of the spinous process of the third lumbar spine was performed under epidural anesthesia.
OUTCOMES
At the time of discharge, the patient had no problems with autonomous activities and reported no discomfort. We also followed up the patient at 12 and 36 months after surgery, and the patient reported no discomfort, inconvenience, and no recurrence of symptoms. Imaging examination 1 year after surgery showed no recurrence.
LESSON
This case suggests that surgery for RDD with spinal involvement may not require internal fixation.
Topics: Adult; Anesthesia, Epidural; Female; Histiocytosis, Sinus; Humans; Low Back Pain; Lumbar Vertebrae; Lymphadenopathy; Musculoskeletal System; Vertebral Body
PubMed: 35212270
DOI: 10.1097/MD.0000000000028413 -
Head and Neck Pathology Jun 2020Rosai-Dorfman disease (RDD) is a benign, self-limiting histiocytosis of unknown etiology. The classic form of the condition includes a painless cervical lymphaenopathy...
Rosai-Dorfman disease (RDD) is a benign, self-limiting histiocytosis of unknown etiology. The classic form of the condition includes a painless cervical lymphaenopathy accompanied by fever, weight loss and an elevated ESR. Extra nodal RDD (ENRDD) is most frequent in the head and neck. Thirty-eight cases of ENRDD have been described. Seven cases of ENRDD were identified in our pathology biopsy services. The demographic and clinical information was tabulated logically on the basis of age, gender, location and presence or absence of symptoms, treatment and follow-up. Radiographic and histopathological features were also examined. The findings in these cases were correlated with those available from the previously reported cases. Six cases affected women and one case was diagnosed in a male. The age ranged from 22-55 years. Three cases presented as a nasal mass. One of these lesions extended into the paranasal sinuses. One case was located in the maxilla and extended to involve the maxillary sinus. Three cases were diagnosed in the mandible. The maxillary and one mandibular lesion (Case 2) resulted in significant painful irregular bone destruction with a non-healing socket and tooth mobility respectively. One mandibular lesion was asymptomatic (Case 6). The third case affecting the mandible presented as a rapidly expansile mass following a tooth extraction (Case 7). Nasal masses presented with symptoms of obstruction. Nasal masses were excised with no recurrence from up to 2-3 years of follow-up. The mandibular lesions were curetted aggressively. The oral mass in Case 7 was excised synchronously. No recurrence up to 2 years was recorded in Case 2. Follow-up information is not available for Cases 6 and 7. The maxillary lesion was not intervened surgically. The patient has persistent but stable disease for a follow-up period of 2 years. ENRDD is rarely considered in the differential diagnosis in the absence of lymph node involvement. Lesions of ENRDD resemble many other histiocytic and histiocyte-rich lesions of the head and neck. This makes the diagnosis of ENRDD challenging with the potential for under diagnosis or misdiagnosis and delay in treatment.
Topics: Adult; Female; Histiocytosis, Sinus; Humans; Jaw Neoplasms; Male; Middle Aged; Nose Neoplasms; Paranasal Sinus Neoplasms; Young Adult
PubMed: 31368076
DOI: 10.1007/s12105-019-01056-8 -
Pediatric Investigation Mar 2022Rosai-Dorfman disease (RDD) is an uncommon, benign, and idiopathic histiocytic proliferative disorder. Multiple intracranial RDD is extremely rare and treatment varies.
INTRODUCTION
Rosai-Dorfman disease (RDD) is an uncommon, benign, and idiopathic histiocytic proliferative disorder. Multiple intracranial RDD is extremely rare and treatment varies.
CASE PRESENTATION
A 9-year-old girl was admitted with 3-month history of blurred vision and facial paralysis, a 2-month history of recurrent giggle, and cognitive impairment. Computed tomography and magnetic resonance imaging scans revealed bilateral ventricular masses based on the dural membrane and the diameters of the masses were 9.1 cm and 9.2 cm, respectively. The lesions were completely removed with staging surgeries. Fifteen months after operation, blurred vision was still present but facial paralysis and giggle and cognitive impairment disappeared. Imaging examinations suggested that there were no new or recurring lesions.
CONCLUSION
For multiple large intracranial masses, surgical treatment is necessary and staged surgery benefits perioperative safety. Active follow-up with magnetic resonance imaging is necessary.
PubMed: 35382423
DOI: 10.1002/ped4.12306 -
The Journal of International Medical... Mar 2022Rosia-Dorfman disease (RDD) is a rare benign disease with exceedingly rare neural involvement. In this report, we describe a very rare case of intracranial RDD mimicking...
Rosia-Dorfman disease (RDD) is a rare benign disease with exceedingly rare neural involvement. In this report, we describe a very rare case of intracranial RDD mimicking a subdural hematoma. The patient presented with headache and a suspected history of head injury. Head computed tomography showed a well-demarcated extra-axial crescentic hyperdense lesion along the right hemisphere convexity, and this lesion was initially mistaken for a subacute subdural hematoma with brain contusion. However, the follow-up examinations during the subsequent month did not show the natural changes characteristic of a subdural hematoma. Thus, a magnetic resonance imaging scan was performed, which showed a crescentic lesion with T1 isointensity, T2 hypointensity, and obvious homogeneous enhancement. Differential diagnoses such as lymphoma and metastases were considered, and surgery was performed. The final histopathologic examination confirmed the diagnosis of RDD. This report describes a rare presentation of RDD. RDD can mimic the appearance of a subdural hematoma and should be considered as a differential diagnosis even in patients with a history of head injury and a "classic" imaging appearance of a subdural hematoma.
Topics: Craniocerebral Trauma; Hematoma, Subdural; Histiocytosis, Sinus; Humans; Magnetic Resonance Imaging; Tomography, X-Ray Computed
PubMed: 35282682
DOI: 10.1177/03000605221083750 -
Zhongguo Xiu Fu Chong Jian Wai Ke Za... Aug 2018To summarize the preliminary effectiveness of surgical treatment of Erdheim-Chester disease (ECD), so as to improve the understanding of the disease by orthopedic...
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, ., 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.
Topics: Adolescent; Adult; Bone Nails; Child; Erdheim-Chester Disease; Female; Humans; Male; Middle Aged; Quality of Life; Retrospective Studies; Young Adult
PubMed: 30238730
DOI: 10.7507/1002-1892.201802062 -
The American Journal of Case Reports Aug 2022BACKGROUND Histiocytic disorders, a group of disorders with heterogeneous pathogenesis, morphology, and clinical presentation, include Rosai-Dorfman disease, Langerhans...
BACKGROUND Histiocytic disorders, a group of disorders with heterogeneous pathogenesis, morphology, and clinical presentation, include Rosai-Dorfman disease, Langerhans cell histiocytosis, and Erdheim-Chester disease. They can mimic primary or metastatic tumors, both clinically and radiologically, when involving the brain. Therefore, it is crucial to present and discuss cases of histiocytic disorder involving the central nervous system (CNS) to provide new information on disease presentation and diagnosis more. In this paper, we present 2 cases of histiocytic lesions involving the brain and mimicking primary brain tumors. CASE REPORT Case 1: A 65-year-old man presented with increasing memory loss, confusion, and depression. CT scans showed an isolated 2.9×2.0×0.6 cm intracranial hypothalamic lesion. Case 2: A 61-year-old woman presented with dizziness and confusion for 3 weeks and headaches for 1 day. MRI showed a single 5.0×4.0×3.3 cm extra-axial, dural-based, avidly enhancing, well-defined lesion along the left parietal convexity causing mass effect upon the underlying brain parenchyma, left atrial effacement, and minimal vasogenic edema. CONCLUSIONS Histiocytic disorders are relatively rare in the CNS compared with other locations and mimic more common entities in the brain, such as glioma or metastatic tumors. Despite its rarity, one should remain aware of the condition and consider it in the differential diagnosis. This article provides a brief review and adds pivotal data to the literature.
Topics: Aged; Brain Neoplasms; Diagnosis, Differential; Female; Histiocytosis, Sinus; Humans; Magnetic Resonance Imaging; Male; Middle Aged
PubMed: 35971309
DOI: 10.12659/AJCR.935885 -
Indian Journal of Dermatology,... 2023
Topics: Humans; Lymphadenopathy; Histiocytosis, Sinus; Neck; Face; Lymph Nodes
PubMed: 35962502
DOI: 10.25259/IJDVL_960_2021 -
Journal of Ayub Medical College,... 2023Previously classified as Non Langerhan cell histiocytosis by the Working Group of Histiocytic Society in 1987 Rosai Dorfman Destombes disease was first described by...
Previously classified as Non Langerhan cell histiocytosis by the Working Group of Histiocytic Society in 1987 Rosai Dorfman Destombes disease was first described by Destombes in 1965 and later in 1969 by Rosai and Dorfman as a rare histiocytic disorder with sinus histiocytosis and massive lymphadenopathy. They exist in both nodal and extranodal forms. Immunohistochemistry is an essential part of diagnosis to differentiate between Langerhans cell histiocytosis and another malignant histiocytosis. Some overlap has also been reported with IgG4-related diseases. We hereby reflect upon a patient who presented to our facility with pyrexia of unknown origin, the challenges faced to reach a diagnosis and the management offered.
Topics: Humans; Histiocytosis, Sinus; Lymphadenopathy; Fever; Immunohistochemistry; Diagnosis, Differential
PubMed: 38404101
DOI: 10.55519/JAMC-03-11450 -
Molecular Cancer Therapeutics Jun 2019The mutation and BRAF inhibitor responsiveness characterize ∼50% of patients with the non-Langerhans cell histiocytosis (non-LCH) Erdheim-Chester disease (ECD). We...
The mutation and BRAF inhibitor responsiveness characterize ∼50% of patients with the non-Langerhans cell histiocytosis (non-LCH) Erdheim-Chester disease (ECD). We interrogated the non-LCH molecular landscape [ECD, = 35; Rosai-Dorfman disease (RDD), = 3; mixed ECD/RDD, = 1] using PCR and/or next-generation sequencing [tissue and cell-free DNA (cfDNA) of plasma and/or urine]. Of 34 evaluable patients, 17 (50%) had the mutation. Of 31 patients evaluable for non- alterations, 18 (58%) had ≥1 alteration and 12 putative non- MAPK pathway alterations: atypical mutation; , and mutations; or amplifications; (TRK inhibitor-sensitive) and fusions. Four patients had alterations, which can correlate with myeloid neoplasms, a known ECD predisposition, and one developed myelofibrosis 13 months after cfDNA testing. Therefore, our multimodal comprehensive genomics reveals clinically relevant alterations and suggests that MAPK activation is a hallmark of non-LCH.
Topics: Adolescent; Adult; Aged; Cell-Free Nucleic Acids; Early Detection of Cancer; Erdheim-Chester Disease; Female; Genomics; High-Throughput Nucleotide Sequencing; Histiocytosis, Sinus; Humans; Leukemia, Myeloid; Male; Middle Aged; Mitogen-Activated Protein Kinases; Mutation; Polymerase Chain Reaction; Proto-Oncogene Proteins B-raf; Young Adult
PubMed: 31015311
DOI: 10.1158/1535-7163.MCT-18-1244