-
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 -
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 -
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 -
Archives of Pathology & Laboratory... Jul 2007This article provides an overview of the major pathologic manifestations of sinus histiocytosis with massive lymphadenopathy, including patient characteristics and... (Review)
Review
CONTEXT
This article provides an overview of the major pathologic manifestations of sinus histiocytosis with massive lymphadenopathy, including patient characteristics and current knowledge about its pathogenesis, with an emphasis on multifocal and extranodal presentation. Sinus histiocytosis with massive lymphadenopathy is a rare, nonneoplastic, idiopathic, proliferative histiocytic disorder; recognition of this disorder is important to avoid misinterpretation and subsequent unnecessary treatment. This is especially true for primary extranodal manifestation of this rare disorder. Although accurate diagnosis of this entity requires a correlation of clinical, radiologic, laboratory, and pathologic studies in most cases, it remains a disorder primarily defined by its histopathologic features and pathologic manifestations, which are key to the diagnosis.
OBJECTIVE
To summarize the scientific literature, provide a concise review, and emphasize the diagnostic histopathologic features of extranodal sinus histiocytosis with massive lymphadenopathy.
DATA SOURCES
A comprehensive literature review was undertaken to summarize the clinical and pathologic features of this disorder.
CONCLUSIONS
Sinus histiocytosis with massive lymphadenopathy is characterized by a rare, acquired, nonmalignant proliferation of distinctive histiocytes that present with lymphadenopathy or extranodal disease, primarily in children and young adults. It exhibits a broad range of clinical presentations, thus eliciting a wide differential diagnosis. The diverse clinical manifestations and frequent association with subtle or severe immunologic abnormalities suggest an immune-mediated cause. Additional studies are needed to characterize the interplay between death receptors and cytotoxic mediators and to further elucidate the loss of immune hemostasis that may underlie idiopathic histiocytic proliferations such as this.
Topics: Antigens, CD; Bone and Bones; Histiocytes; Histiocytosis, Sinus; Humans; Lymphatic Diseases; Radiography
PubMed: 17617001
DOI: 10.5858/2007-131-1117-MESHWM -
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 -
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 -
Medicina (Kaunas, Lithuania) Oct 2021: Rosai-Dorfman disease (RDD) is a type of histiocytosis that usually appears in young adults or children as bilateral cervical lymphadenopathy, but extranodal... (Review)
Review
: Rosai-Dorfman disease (RDD) is a type of histiocytosis that usually appears in young adults or children as bilateral cervical lymphadenopathy, but extranodal involvement in not uncommon. Although the pathogenesis is not entirely elucidated, recent studies showed a possible neoplastic process. : Our manuscript presents a rare case of Rosai-Dorfman disease of the breast, the management of this rare case, and a literature review. There are few cases reported of RDD of the breast (around 90 globally reported cases); the data is poor, and the management not yet standardized for these cases. The case reported here shows the importance of correct breast investigation, breast imaging, and ultrasound-guided biopsy that provided an accurate diagnosis and guided further management. : Although RDD of the breast was rarely presented as bilateral disease in other case reports, our case showed bilateral breast disease with the suspicion of breast cancer on imaging. Pathology and immunohistochemistry were of critical importance and showed a specific pattern for histiocytosis. A multidisciplinary approach was taken into consideration for these cases in order to establish the approach. Some patients underwent surgery, but watchful waiting and close follow-up were the preferred approach. : RDD of the breast is a rare form of histiocytosis, with fewer than 100 globally published cases. Although the management of this disease is not established yet by guidelines, a follow-up approach should be enough for these patients, and surgery might be overtreatment. Mortality from RDD is very low due to comorbidities. A multidisciplinary team decision is important, and abstinence might significantly benefit these patients.
Topics: Breast; Breast Neoplasms; Child; Female; Histiocytosis, Sinus; Humans; Immunohistochemistry; Young Adult
PubMed: 34833385
DOI: 10.3390/medicina57111167 -
Autopsy & Case Reports 2016Rosai-Dorfman disease (RDD), formerly called sinus histiocytosis with massive lymphadenopathy, is a non-neoplastic proliferative histiocytic disorder with behavior...
Rosai-Dorfman disease (RDD), formerly called sinus histiocytosis with massive lymphadenopathy, is a non-neoplastic proliferative histiocytic disorder with behavior ranging from highly aggressive to spontaneous remission. Although the lymph nodes are more commonly involved, any organ can be affected. This study aimed to describe the features and the follow-up of a case of extranodal RDD. Our patient was a 39-year-old woman who was referred with an 11-month history of pain in the right maxilla. On clinical examination, some upper right teeth presented full mobility with normal appearance of the surrounding gingiva. Radiographic exams showed an extensive bone reabsorption and maxillary sinus filled with homogeneous tissue, which sometimes showed polypoid formation. An incisional biopsy demonstrated a diffuse inflammatory infiltrate rich in foamy histiocytes displaying lymphocytes emperipolesis. Immunohistochemistry showed positivity for CD68 and S-100, and negativity for CD3, CD20, and CD30. Such features were consistent with the RDD diagnosis. The patient was referred to a hematologist and corticotherapy was administrated for 6 months. RDD is an uncommon disease that rarely affects the maxilla. In the present case, the treatment was conservative, and the patient is currently asymptomatic after 5 years of follow-up.
PubMed: 28210574
DOI: 10.4322/acr.2016.057