-
Cureus Jun 2022Rosai-Dorfman disease (also known as sinus histiocytosis with massive lymphadenopathy or Rosai-Dorfman-Destombes disease) is a rare reactive histiocytic disease,...
Rosai-Dorfman disease (also known as sinus histiocytosis with massive lymphadenopathy or Rosai-Dorfman-Destombes disease) is a rare reactive histiocytic disease, classically involving the lymph nodes of the neck, but it can also occur in extranodal sites. Isolated spinal involvement is rare but important to identify as it can mimic malignancy with males being affected more than females. We present a case of a 52-year-old female patient who had breast cancer and was admitted with long-standing anal and sacral pain. The MRI lumbar spine showed a mass concerning for metastasis. CT-guided biopsy results showed sheets of histiocyte-like cells, some of which were positive with S100 and showed emperipolesis along with plasma cells, lymphocytes, and neutrophils. Features were in keeping with Rosai-Dorfman syndrome. The patient responded to steroids. The familiarity with this entity saved the patient from going through the agony of this being considered a metastasis of her primary malignancy.
PubMed: 35911256
DOI: 10.7759/cureus.26317 -
Cureus Jun 2022Encountering a young child with an enlarging painless facial swelling often raises concerns in the treating physician about the possibility of a congenital lesion or an...
Encountering a young child with an enlarging painless facial swelling often raises concerns in the treating physician about the possibility of a congenital lesion or an unfavorable pediatric tumor. We discuss a case of a female child who presented with multiple craniofacial swellings, which turned out to be Langerhans cell histiocytosis (LCH). She was subsequently diagnosed with multisystem LCH (MS-LCH) with risk-organ involvement, which included the craniofacial bones, skin, hemopoietic system, and liver. We analyze the various presentations and systemic complications of this rare pediatric tumor, LCH, with an aim to address the diagnostic dilemma associated with this great masquerader.
PubMed: 35812621
DOI: 10.7759/cureus.25684 -
Radiology. Imaging Cancer Jun 2022
Topics: Diagnosis, Differential; Histiocytosis, Sinus; Humans; Sciatic Nerve
PubMed: 35748761
DOI: 10.1148/rycan.220046 -
Intractable & Rare Diseases Research May 2022Rosai-Dorfman disease (RDD) is also called sinus histiocytosis with massive lymphadenopathy, and it is caused by a histiocytic disorder with unclear etiology. It usually...
Rosai-Dorfman disease (RDD) is also called sinus histiocytosis with massive lymphadenopathy, and it is caused by a histiocytic disorder with unclear etiology. It usually involves cervical lymph nodes, but it may also present with extranodal involvement. We report a rare condition of isolated hepatic RDD without nodal involvement, clinically manifested with three-month abdominal pain and tenderness of the right hypochondrium. CT- and PET-CT scans were compatible with a secondary lesion from an unknown primary tumor. Therefore, the patient underwent an atypical liver resection. Immunohistochemistry and histological results were compatible with a diagnosis of RDD. RDD is characterized by phenomena of emperipolesis, histiocytic proliferation and positive immunostaining for CD14, CD68 and S-100 protein. Cases of isolated gastrointestinal localization of RDD are particularly rare, especially in the liver. Instrumental exams might confuse RDD with other malignancies. RDD is a rare entity, which might be misdiagnosed using PET-CT due to its similarities with malignant tumors. An accurate multidisciplinary approach may help to clear diagnostic clues of this uncommon disease.
PubMed: 35702580
DOI: 10.5582/irdr.2022.01037 -
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 -
International Journal of Dermatology Nov 2022
Topics: Histiocytosis, Sinus; Humans; MAP Kinase Kinase 1; Methotrexate; Mutation; Proto-Oncogene Proteins c-ret; Skin Diseases
PubMed: 35569068
DOI: 10.1111/ijd.16269 -
Zhongguo Yi Xue Ke Xue Yuan Xue Bao.... Apr 2022Objective To investigate the clinical and magnetic resonance imaging(MRI) manifestations of Rosai-Dorfman disease(RDD) in central nervous system. Method The clinical and...
Objective To investigate the clinical and magnetic resonance imaging(MRI) manifestations of Rosai-Dorfman disease(RDD) in central nervous system. Method The clinical and MRI data of 5 cases of RDD in central nervous system confirmed by pathology in the PLA General Hospital were analyzed retrospectively. Results The 5 cases included 4 males and 1 female,aged(39.8±21.7) years on average.Among them,4 cases were located in the intracranial area and 1 case in the thoracic spinal canal.The lesion showed isointense signal on T weighted image and iso,slight-hypo,and slight-hyperintense signals on T weighted image,and it presented intensively homogeneous enhancement in contrast-enhanced MRI.Two cases showed compressed brain area with edema around the left parietal and left frontotemporal dura,thickening and enhancement in the adjacent dura,and dural tail sign.Three cases presented bone destruction in adjacent diploe and thoracic vertebrae.One case showcased slight-hypo perfusion of the left parietal dura in arterial spin labeling. Conclusions RDD lesion usually appears as iso,slight hypo and slight hyper-intense signals on T weighted image and presents intensively homogeneous enhancement in contrast-enhanced MRI.The disease may involve the adjacent bone and the lesion shows slight hypo-perfusion on perfusion images.The MRI manifestations of RDD are characteristic,which are helpful for preoperative diagnosis and evaluation of RDD.
Topics: Central Nervous System; Female; Head; Histiocytosis, Sinus; Humans; Magnetic Resonance Imaging; Male; Retrospective Studies
PubMed: 35538751
DOI: 10.3881/j.issn.1000-503X.14703 -
Cureus Mar 2022Fibrosing mediastinitis (FM) is an uncommon diagnosis that involves the proliferation of extensive, dense fibrous tissue in the mediastinum. FM accounts for less than 1%...
Fibrosing mediastinitis (FM) is an uncommon diagnosis that involves the proliferation of extensive, dense fibrous tissue in the mediastinum. FM accounts for less than 1% of people with prior infection by that develop hypersensitivity immune responses to antigens released during the initial exposure. Other causes include tuberculosis, blastomycosis, sarcoidosis, radiation, and idiopathic. We describe FM presenting with superior vena cava (SVC) syndrome. A 66-year-old Caucasian male presented with a one-week history of progressively worsening facial swelling associated with dysphonia, bilateral ptosis, dyspnea on exertion, and unintentional weight loss of 30 pounds within the past three months. He had a 40-pack-year smoking history and a past medical history of essential hypertension, peripheral vascular disease, and bilateral internal carotid artery stenosis. The CT chest demonstrated non-specific soft tissue extending throughout the mediastinum and towards the right hilar region, complicated by severe attenuation of the superior vena cava and a 2.4 cm × 1.6 cm necrotic lymph node. The mediastinum had hyperemic and desmoplastic changes heavily encased in venous collaterals. L4 lymph node pathological evaluation demonstrated sinus histiocytosis and reactive lymphoid hyperplasia without signs of malignancy or atypia. The patient was treated with corticosteroid and diuretic therapy to achieve intermittent symptomatic relief, but continued to decline clinically, ultimately leading to his demise. The diagnosis of FM is best obtained through CT chest with intravenous contrast to demonstrate abnormal mediastinal tissue and possible structural compromise. A biopsy of the mediastinal tissue may also help rule out malignancy. Only a few case reports have demonstrated mixed symptomatic and radiologic responses to anti-inflammatory and/or antifungal treatment. Even non-surgical and surgical interventions have shown inconsistent efficacy, with frequent restenosis warranting re-exploration.
PubMed: 35505701
DOI: 10.7759/cureus.23700 -
Haematologica Nov 2022Erdheim-Chester disease (ECD) is a rare L-group histiocytosis. Orbital involvement is found in a third of cases, but few data are available concerning the radiological...
Erdheim-Chester disease (ECD) is a rare L-group histiocytosis. Orbital involvement is found in a third of cases, but few data are available concerning the radiological features of ECD-related orbital disease (ECD-ROD). Our aim was to characterize the initial radiological phenotype and outcome of patients with ECD-ROD. Initial and follow-up orbital magnetic resonance imaging (MRI) from the patients with histologically proven ECD at a national reference center were reviewed. Pathological orbital findings were recorded for 45 (33%) of the 137 patients included, with bilateral involvement in 38/45 (84%) cases. The mean age (± standard deviation) of these patients was 60 (±11.3) years and 78% were men. Intraconal fat infiltration around the optic nerve sheath adjacent to the eye globe (52%), with intense gadolinium uptake and a fibrous component was the most frequent phenotype described. Optic nerve signal abnormalities were observed in 47% of cases. Two patients had bilateral homogeneous extraocular muscle enlargement suggestive of a myositis-like involvement of ECD-ROD. None had isolated dacryoadenitis but in 17 eyes dacryodenitis was described in association with other types of orbital lesions. Only seven patients (15%) had normal brain MRI findings. ECD-associated paranasal sinus involvement and post-pituitary involvement were detected in 56% and 53% of patients, respectively. A decrease/disappearance of the lesions was observed in 17/24 (71%) of the patients undergoing late (>12 months) followups. Interestingly, ECD-ROD only rarely (7/45; 16%) revealed the disease, with exophthalmos being the most frequently identified feature in this subgroup (3/45; 6%). Even though ECD-ROD can be clinically silent, it comprises a broad array of lesions often resulting in optic nerve signal abnormalities, the functional outcome of which remains to be established. ECD-ROD should thus be assessed initially and subsequently monitored by orbital MRI and ophthalmological follow-up.
Topics: Humans; Erdheim-Chester Disease; Magnetic Resonance Imaging; Exophthalmos; Histiocytosis
PubMed: 35484665
DOI: 10.3324/haematol.2021.280510 -
Diagnostics (Basel, Switzerland) Mar 2022Rosai-Dorfman Disease (RDD), also known as sinus histiocytosis, is included in the group of rare diseases, characterized by proliferation and accumulation of histiocytes...
Rosai-Dorfman Disease (RDD), also known as sinus histiocytosis, is included in the group of rare diseases, characterized by proliferation and accumulation of histiocytes in the lymph nodes (lymphadenopathy), most often involving the cervical ganglion chains (nodal form). RDD bone involvement is rare, estimated at 10% of cases, but primary bone involvement (extranodal form), is very rare-2-8%. Usually they are solitary lesions, with multifocal primary bone manifestations being extremely rare. Histopathological analysis is of high value for a correct diagnosis. We present the case of a Caucasian woman, 42 years old, initially treated in another clinic, for an osteolytic tumor formation in the right tibial shaft. An excisional biopsy with bone trepanation was performed, the histopathological diagnosis being the chronic inflammatory tissue. The evolution was atypical, with tumor growth, extraosseous, subcutaneous. A needle biopsy was repeated in our clinic, the result being similar to the original one. Evolution of the tumor, and the radiological and imaging aspect (periosteal reaction, eroded and thin bone cortex) suggested a more aggressive disease, these being in inconsistency with the result obtained. The biopsy was repeated, as an excision type this time. The histopathological result and immunohistochemistry indicated an RDD primary bone lesion. Based on this result, and corroborated with the data from the literature, we initiated the surgical treatment, curettage and grafting with bone substitute plus safety osteosynthesis with locked plaque, the patient registering a favorable evolution. RDD primary bone lesions are in fact an atypical manifestation of a rare disease. The correct diagnosis is very difficult due to the non-specific imaging aspect. Histopathological examination errors, especially in the case of needle biopsies can lead to errors in diagnosis and treatment with negative results for the patient.
PubMed: 35453831
DOI: 10.3390/diagnostics12040783