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Der Pathologe Mar 2021A dysregulated immune response is considered one of the major factors leading to severe COVID-19. Previously described mechanisms include the development of a cytokine... (Review)
Review
BACKGROUND
A dysregulated immune response is considered one of the major factors leading to severe COVID-19. Previously described mechanisms include the development of a cytokine storm, missing immunoglobulin class switch, antibody-mediated enhancement, and aberrant antigen presentation.
OBJECTIVES
To understand the heterogeneity of immune response in COVID-19, a thorough investigation of histomorphological patterns in regional lymph nodes was performed.
MATERIALS AND METHODS
Lymph nodes from the cervical, mediastinal, and hilar regions were extracted from autopsies of patients with lethal COVID-19 (n = 20). Histomorphological characteristics, SARS-CoV‑2 qRT-PCR, and gene expression profiling on common genes involved in immunologic response were analyzed.
RESULTS
Lymph nodes displayed moderate to severe capillary stasis and edema, an increased presence of extrafollicular plasmablasts, mild to moderate plasmacytosis, a dominant population of CD8 T‑cells, and CD11c/CD68 histiocytosis with hemophagocytic activity. Out of 20 cases, 18 presented with hypoplastic or missing germinal centers with a decrease of follicular dendritic cells and follicular T‑helper cells. A positive viral load was detected by qRT-PCR in 14 of 20 cases, yet immunohistochemistry for SARS-CoV-2 N-antigen revealed positivity in sinus histiocytes of only one case. Gene expression analysis revealed an increased expression of STAT1, CD163, granzyme B, CD8A, MZB1, and PAK1, as well as CXCL9.
CONCLUSIONS
Taken together, our findings imply a dysregulated immune response in lethal COVID-19. The absence/hypoplasia of germinal centers and increased presence of plasmablasts implies a transient B‑cell response, implying an impaired development of long-term immunity against SARS-CoV‑2 in such occasions.
Topics: CD8-Positive T-Lymphocytes; COVID-19; Humans; Lung; Lymph Nodes; SARS-CoV-2
PubMed: 33575887
DOI: 10.1007/s00292-021-00914-z -
BMJ Case Reports Feb 2021Rosai-Dorfman disease is a rare benign histiocytic proliferative disease of unknown cause that, in exceptional cases, presents with lesions confined to the skin....
Rosai-Dorfman disease is a rare benign histiocytic proliferative disease of unknown cause that, in exceptional cases, presents with lesions confined to the skin. Clinically variable types of lesions such as papules, nodules and plaques have been reported. We present a case of a 27-year-old woman with a 1-year history of erythematous papular and nodular lesions on the malar and right axillary regions, previously misdiagnosed as acne. She reported no fever, malaise or weight loss, while physical examination and laboratory workup were normal. Bacteriological and mycobacteriological cultures were negative. Histopathological findings showed dense infiltration of inflammatory cells involving the entire dermis, consisting of large macrophages with emperipolesis, S100 and CD68 positive, neutrophils, eosinophils, lymphocytes and plasma cells. The patient was treated with oral prednisolone without improvement. Dapsone was subsequently initiated with favourable clinical response. The present article aimed to emphasise the clinical and histological differential diagnosis and share the treatment experience.
Topics: Adult; Anti-Infective Agents; Dapsone; Diagnostic Errors; Emperipolesis; Eosinophils; Female; Glucocorticoids; Histiocytosis, Sinus; Humans; Prednisolone; Rare Diseases; S100 Proteins; Skin
PubMed: 33541998
DOI: 10.1136/bcr-2020-239244 -
Central-European Journal of Immunology 2018Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a rare, benign clinical entity of unknown cause. RDD is characterised by... (Review)
Review
Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a rare, benign clinical entity of unknown cause. RDD is characterised by the overproduction and accumulation of histiocytes, primarily in the lymph nodes, although it may affect every organ and system. It predominantly affects children and young adults. Typically, patients are in good general condition, with massive cervical lymphadenopathy and fever. In about 40% of cases extranodal localisation of RDD is diagnosed. In laboratory tests the most common abnormalities are increased erythrocyte sedimentation rate (ESR), leukocytosis with neutrophilia, normocytic anaemia, and hypergammaglobulinaemia. Histopathological examination remains the mainstay of diagnosis - lymph nodes have massive sinusoidal dilation, containing histiocytes positive for S-100 and CD68, and negative for CD1a. Most patients do not require treatment as spontaneous remissions are observed. We present a brief review of the literature and the case of a six-year-old boy with cervical lymphadenopathy diagnosed with RDD. So far, the patient has not required systemic treatment and has been kept under observation.
PubMed: 30588179
DOI: 10.5114/ceji.2018.80055 -
Pathologica Oct 2021Rosai-Dorfman disease (RDD) is a rare form of non-Langerhans cell histiocytosis described by Rosai and Dorfman in 1969. It is a fascinating disease characterized by... (Review)
Review
Rosai-Dorfman disease (RDD) is a rare form of non-Langerhans cell histiocytosis described by Rosai and Dorfman in 1969. It is a fascinating disease characterized by accumulation of large, pale histiocytes, frequently showing the emperipolesis phenomenon. The variety of pathological aspects and the spectrum of different clinical forms were deeply investigated by Prof. Rosai. Despite recent advancements in the dissection of pathogenetic mechanisms of RDD, with the identification of gene mutations in the MAP kinase pathway, several biological and clinical aspects of this disease remains to be elucidated: this is one of the Prof. Rosai's legacies.
Topics: Histiocytes; Histiocytosis, Sinus; Humans
PubMed: 34837097
DOI: 10.32074/1591-951X-548 -
Indian Journal of Otolaryngology and... Dec 2022: Langerhans cell histiocytosis (LCH) is a rare disease in adults, and it is even uncommon in pediatric populations, affecting only 1-2 people per million. A LCH located...
: Langerhans cell histiocytosis (LCH) is a rare disease in adults, and it is even uncommon in pediatric populations, affecting only 1-2 people per million. A LCH located in the frontal sinus is exceptionally unusual. We present a case of LCH located in the far lateral of the frontal sinus and discuss management as well as surgical techniques to control this far lateral frontal sinus lesion. : A 39 year old female, presented with a history of progressive headaches and purulent nasal discharge for three months. Computed tomography (CT) of the sinuses showed an approximately 15 × 10 mm soft tissue with osteolytic bony changes located in lateral wall of the frontal sinus on the left side. Total tumor removal was achieved by minimally invasive endonasal endoscopic surgery with a periorbital suspension technique. Histopathologic analysis revealed LCH and the patient was referred to a hematologist for further treatment. : LCH is a rare hematological pathology. It should be diagnosed timely and treated with a multidisciplinary approach. To get a definitive diagnosis a biopsy is mandatory. Having LCH in the far lateral frontal sinus can be challenging for a biopsy even for experienced surgeons. Using curved instruments while performing an endonasal periorbital suspension technique makes it possible to access the lateral wall of the frontal sinus safely and provides an effective surgical route similar to traditional open approaches without causing any external scars.
PubMed: 36742520
DOI: 10.1007/s12070-021-02968-0 -
Orphanet Journal of Rare Diseases Feb 2022Non-Langerhans cell histiocytosis, including Erdheim-Chester disease (ECD), Rosai-Dorfman disease (RDD), indeterminate cell histiocytosis (ICH), and unclassified...
BACKGROUND
Non-Langerhans cell histiocytosis, including Erdheim-Chester disease (ECD), Rosai-Dorfman disease (RDD), indeterminate cell histiocytosis (ICH), and unclassified histiocytosis, is a rare disorder lacking a standard treatment strategy. We report our experience using intermediate-dose cytarabine as the first or subsequent therapy in non-Langerhans cell histiocytosis.
RESULTS
Nine ECD patients, 5 RDD patients, 1 ICH patient and 1 unclassified histiocytosis patient were enrolled. Intermediate-dose cytarabine therapy was administered as 0.5-1.0 g/m of intravenous cytarabine every 12 h for 3 days every 5 weeks. The median age at cytarabine initiation was 47.5 years (range 18-70 years). The median number of cycles of cytarabine administered was 5.5 (range 2-6). The overall response rate (ORR) was 87.5% in the overall cohort, including 12.5% with complete response and 75.0% with partial response. One patient experienced disease recurrence 19 months after cytarabine therapy. The median follow-up duration for the entire cohort was 15.5 months (range 6-68 months). The estimated 2-year progression-free survival and overall survival rates were 85.6% and 92.3%, respectively. The most common toxicity was haematological adverse events, including grade 4 neutropenia and grade 3-4 thrombocytopenia. No treatment-related deaths occurred.
CONCLUSIONS
Intermediate-dose cytarabine is an efficient treatment option for non-Langerhans cell histiocytosis patients, especially for those with CNS involvement.
Topics: Cytarabine; Erdheim-Chester Disease; Histiocytosis, Langerhans-Cell; Histiocytosis, Sinus; Humans; Neutropenia
PubMed: 35130950
DOI: 10.1186/s13023-022-02193-0 -
BMC Medical Imaging Apr 2021Rosai-Dorfman-Destombes (RDD) disease, is a rare proliferative and inflammatory disorder of non-Langerhans cell histiocytes.
BACKGROUND
Rosai-Dorfman-Destombes (RDD) disease, is a rare proliferative and inflammatory disorder of non-Langerhans cell histiocytes.
CASE PRESENTATION
We report a 35-year-old woman, who originally presented with recurrent episodes of lower extremity joint/bone pain and chronic nasal stuffiness and congestion. Her worsening nasal congestion was due to an obstructing nasal cavity lesion which was subsequently biopsied. Pathology was consistent with RDD. F-FDG PET images demonstrated intense uptake in the paranasal sinuses and a large pelvic lymph node. Focal osseous lesions with intense F-FDG uptake were also observed in the lower extremity, corresponding to areas of peri-articular pain. Rheumatologic work-up was consistent with palindromic rheumatism. She was diagnosed with immune-related disseminated RDD, presenting as palindromic rheumatism.
CONCLUSIONS
This is the first case of RDD presenting as palindromic rheumatism. RDD should be considered as a possible but rare diagnosis in young patients with sinus-related symptoms and lymphadenopathy. The disease can on rare occasions be disseminated and can also present as immune-related RDD, such as in this patient.
Topics: Adult; Ankle; Arthritis, Rheumatoid; Female; Fluorodeoxyglucose F18; Histiocytosis, Sinus; Humans; Knee; Lymphadenopathy; Nose Diseases; Paranasal Sinuses; Pelvic Bones; Positron-Emission Tomography; Radiopharmaceuticals; Whole Body Imaging
PubMed: 33858362
DOI: 10.1186/s12880-021-00596-2 -
Ear, Nose, & Throat Journal May 2022Langerhans Cell Histiocytosis is a rare disorder characterized by an abnormal proliferation of Langerhans cells in one or multiple organs. It rarely presents with a...
Langerhans Cell Histiocytosis is a rare disorder characterized by an abnormal proliferation of Langerhans cells in one or multiple organs. It rarely presents with a central vestibular involvement. We report a case of a multisystem Langerhans Cell Histiocytosis with mucosal, hepatic, and neurological involvement, presenting with dizziness and balance disorders. A 39-year-old woman with a histopathologically confirmed mucosal palatal Langerhans Cell Histiocytosis presented with a history of dizziness for a year. Vestibular examination revealed a saccadic eyes pursuit, an up beating spontaneous nystagmus, a bilateral gaze nystagmus and a prolonged positional nystagmus, in the supine roll test. Pure tone audiometry showed a slight left sensorineural hearing loss at the 8000 Hz frequency. Computed tomography (CT) scan showed a bilateral maxillary sinus fullness and a peripheral osteosclerosis of the surrounding bony walls. Hepatic magnetic resonance imaging (MRI) showed a typical hepatic involvement with a hepatomegaly with countless cysts. Temporal bone CT scan and MRI were normal. Cerebral MRI showed an hyperintense nodular signal at T2 FLAIR weighted images lateral to the right pons, at the level of the left middle cerebellar peduncle and at the left mesencephalon. Balance disorders can rarely present a sign of a degenerative neurological cerebellar involvement. Such a rare manifestation can present in different neurological disorders such as Langerhans' cell Histiocytosis.
PubMed: 35638545
DOI: 10.1177/01455613221106220 -
Cancer Control : Journal of the Moffitt... Oct 2014Rosai-Dorfman disease (RDD) is a rare, nonmalignant clinical entity characterized by a group of clinical symptoms and characteristic pathological features. (Review)
Review
BACKGROUND
Rosai-Dorfman disease (RDD) is a rare, nonmalignant clinical entity characterized by a group of clinical symptoms and characteristic pathological features.
METHODS
Articles that reviewed tumor biology, clinical features, pathology, and treatment for RDD were identified in a search of the literature for the years 1990 to 2014. The results from this body of literature were reviewed and summarized.
RESULTS
Patients with RDD generally present with massive, painless cervical lymphadenopathy, fevers, and elevated inflammatory markers. Extranodal disease is typical, with the most common sites being the skin and the central nervous system. Rarely, the gastrointestinal tract is involved. Immunohistochemistry remains the mainstay of diagnosis with S100 and CD68 positive cells while CD1a will be negative of involved histiocytes. Histologically, the disease shows the classical characteristic finding of emperipolesis. Many patients do not require treatment; however, surgical resection remains the mainstay of treatment for symptomatic disease. The role of steroids, chemotherapy, and radiation therapy continue to be based on small case series and case reports.
CONCLUSIONS
RDD has a variable clinical presentation; therefore, a high degree of suspicion and a thorough pathological review are necessary to diagnose this rare clinical entity. Although some patients will experience spontaneous resolution, others may require surgical resection or steroid therapy and radiation or chemotherapy. Given the rarity of the disease and the lack of a clear therapeutic pathway, referring patients to a tertiary center is recommended for confirming the diagnosis and treatment considerations.
Topics: Histiocytosis, Sinus; Humans
PubMed: 25310213
DOI: 10.1177/107327481402100408 -
Indian Journal of Otolaryngology and... Dec 2022Rosai-Dorfman disease (RDD) is also known as Sinus Histiocytosis with Massive Lymphadenopathy. It is a rare, benign, self-limiting disease of phagocytic histiocytes...
Rosai-Dorfman disease (RDD) is also known as Sinus Histiocytosis with Massive Lymphadenopathy. It is a rare, benign, self-limiting disease of phagocytic histiocytes presenting with massive painless cervical lymphadenopathy. RDD can present as a nodal disease and also extra-nodal involvement with episodes of exacerbation and remissions and relapses after treatment. Its etiology remains poorly understood and is highly variable in its clinical presentation and response to treatment. Its treatment is poorly defined but the prognosis is usually fair. Here we are reporting a rare, unusual clinical presentation of infraorbital soft tissue mass diagnosed as RDD with cyto-histopathological correlation. Only a few such cases have been reported in the literature.
PubMed: 36742722
DOI: 10.1007/s12070-021-02908-y