Histiocytosis

Adult orbital xanthogranulomatous diseases (AOXGD) present clinically with symmetrical swellings around the eyes and are collectively considered within the broader group of non-Langerhans cell histiocytosis. A 45-year-old female presented with asymptomatic progressive, skin-colored, thick raised lesions around the eyes of 1 year duration. On dermatological examination, large indurated, lobulated, skin-colored thick plaques were seen bilaterally over infraorbital areas, along with a few hard, discrete nodules over the left infraorbital area...

INTRODUCTION: Erdheim-Chester disease (ECD) is a rare disease that belongs to the group of Dendritic and histiocytic neoplasms. Only 2000 cases have been reported worldwide. It can present with a wide range of symptoms, making a differential diagnosis especially difficult. The primary and most important diagnostic tool is a biopsy of the affected organ/tissue. Nowadays the analysis of different mutations affecting the BRAF and MAPK pathways makes it possible to use targeted treatments, such as vemurafenib, dabrafenib, or cobimetinib...

Diffuse cystic lung diseases (DCLDs) are a group of heterogeneous lung diseases that are characterized by inflated spaces or cysts within the lung parenchyma. They also exhibit similar imaging characteristics and clinical manifestations compared with those of cystic lesions, such as pulmonary cavities, emphysema, bronchiectasis and honeycomb lung. The most common DCLDs encountered in the clinic include lymphangioleiomyomatosis, Birt-Hogg-Dubé syndrome, Langerhans cell histiocytosis and lymphocytic interstitial pneumonia...

Hemophagocytic lymphohistiocytosis (HLH), also known as hemophagocytic syndrome (HPS), is a benign histiocytosis with hyperreactive proliferation of the mononuclear phagocyte system caused by immune function abnormalities, which often occurs under the background of genetic mutations, inflammation, infection or tumors. Because the research on malignancy-associated HLH (M-HLH) is focused on hematological malignancies, reports on HLH secondary to solid tumors are rare. In this case, we report a 14-year-old girl who developed HLH during treatment for intracranial multifocal germinoma, and the disease was controlled after hormone combined with etoposide(VP-16) and other related treatments...

BACKGROUND: Rosai-Dorfman disease (RDD) is a form of non-Langerhans cell histiocytosis in which the activated histiocytes of the lymph nodes and other organs begin to accumulate following excessive production. Bilateral, massive, and painless lymphadenopathy are classic presentations. Systemic RDD is already known to be a rare condition, but isolated cutaneous RDD is extremely rare. We presented a rare and unusual presentations of a disease. CASE PRESENTATION: A 35-year-old Thai female with a 6-month history of a small acne-like lesion that rapidly progressed to 5 cm tumor-like lesions on the face within 3 months...

Histiocytic disorders are a wide range of disorders arising from abnormal proliferation and infiltration of dendritic cells. The Histiocyte Society has arranged the disorders into five main groups: L, C, M, R, and H. We present a case in which an elderly woman presented with a solitary osseous lesion in her skull in the right anterior calvarium. Biopsy and histological studies were strongly positive for cyclin D1; positive for CD68, S100, and ZBTB46; weakly positive for OCT2; and equivocal for ALK1 and CD163...

Langerhans cell histiocytosis (LCH) involving the gastrointestinal tract is a rare condition for which clinical experience is limited. We describe the cases of two patients who initially presented with chronic diarrhoea, hypoproteinaemia, and intermittent fever. These findings suggest that in cases of refractory diarrhoea accompanied by recurrent hypoalbuminaemia, especially with abdominal rash, LCH should be considered. Gastrointestinal endoscopy, biopsy, and imaging studies are essential for obtaining a definitive diagnosis...

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Rosai-Dorfman disease is a rare non-Langerhans cell histiocytosis disorder, also known as sinus histiocytosis, with massive lymphadenopathy. Rosai-Dorfman disease is classified into nodal and extranodal diseases. Ocular involvement is one of the common extranodal manifestations; however, uveitis manifestation is infrequent. We reported an interesting Rosai-Dorfman disease patient who presented with chronic bilateral granulomatous anterior uveitis with disc hyperemia and cystoid macular edema. She was a 60-year-old Thai female who had abnormal skin nodules on her back after multiple recurrent chronic anterior uveitis...

Optimal therapeutic approaches for advanced Langerhans cell histiocytosis (LCH) are not known. We assessed the safety and efficacy of combined chemotherapy with MAPK pathway inhibition in 10 patients with refractory systemic disease and/or LCH-associated neurodegeneration. Overall response rate was 9/10 (90%) for the entire cohort: 5/5 (100%) for patients with systemic disease and 6/7 (86%) for patients with central nervous system disease. BRAFV600E+ peripheral blood fraction decreased in 5/6 (83%). Toxicities included fever, skin rash, myalgias, neuropathy, cytopenias and hypocalcaemia...

Over 50% of patients with systemic LCH are not cured with front-line therapies, and data to guide salvage options are limited. We describe 58 patients with LCH who were treated with clofarabine. Clofarabine monotherapy was active against LCH in this cohort, including heavily pretreated patients with a systemic objective response rate of 92.6%, higher in children (93.8%) than adults (83.3%). BRAFV600E+ variant allele frequency in peripheral blood is correlated with clinical responses. Prospective multicentre trials are warranted to determine optimal dosing, long-term efficacy, late toxicities, relative cost and patient-reported outcomes of clofarabine compared to alternative LCH salvage therapy strategies...

BACKGROUND Sinus histiocytosis with massive lymphadenopathy (SHML), Rosai-Dorfman disease, or Rosai-Dorfman-Destombes disease (RDD), is a rare non-Langerhans cell of unknown etiology. This report is of a case of isolated SHML, or Rosai-Dorfman disease, presenting as a right atrial mass with involvement of the tricuspid valve in a 54-year-old woman. This case shows the challenges of diagnosing this condition in the heart and the challenges of treating this rare disease with the limited information on the efficacy of the treatment modalities...

An 89-year-old man presented with progressive gait disturbance, diplopia, and ataxia. Initial brain MRI demonstrated T2/FLAIR hyperintense signal abnormality in the pons extending along the middle cerebellar peduncles into the cerebellum, with associated punctate, patchy, and linear enhancement on postcontrast imaging. Initially, this was attributed to brainstem encephalitis; however, sarcoidosis, histiocytosis, and paraneoplastic/autoimmune encephalitis remained on the differential. One month after initial MRI, 18F-FDG brain PET/MRI was performed and showed marked pontine hypermetabolism corresponding to the signal abnormality and enhancement on structural imaging...

We describe the case of a young male, with no significant medical history, who presented to the Emergency Department (ED) with severe respiratory compromise. He suffered a respiratory arrest shortly after presentation. An initial chest x-ray performed post intubation revealed bilateral pneumothoraces with evidence of abnormal underlying lungs. Through a series of investigations, he was diagnosed with Pulmonary Langerhans Cell Histocystosis. In this article, we outline the initial presentation, subsequent acute management and the clinical course pertaining to this man's presentation...

Rosai-Dorfman disease (RDD) is a benign histiocytosis with unknown etiology. It generally occurs in cervical lymph nodes. Isolated central nervous system (CNS) RDD is very rare in the literature. We reported a case of no systemic involvement Rosai-Dorfmann which is rarely seen and shows CNS involvement by mimicking meningioma. A 32-year-old man presented with diplopia and a headache he has been experiencing for the past two years. His neurological examination showed left facial paresthesia, consistent with trigeminal nerve trace...

Langerhans cell histiocytosis (LCH) can manifest in any organ or system, but the occurrence of cutaneous lesions on the penis, causing urethral stenosis, is particularly uncommon. The diagnosis primarily relies on typical clinical manifestations and pathological examination. Treatment involves the excision of local lesions combined with chemotherapy, with a generally favorable prognosis. A 3-year-old male patient experienced voiding difficulties after circumcision, revealing penile skin lesions upon examination...

Rosai-Dorfman Disease (RDD) is a rare non-Langerhans histiocytosis, usually self-limited and presenting with massive, painless, bilateral cervical lymphadenopathy, with or without constitutional symptoms. Extranodal disease is frequently present, and may happen in the absence of lymph node involvement, symptomatology and differential diagnosis will depend on the site affected and fatal cases may occur. The authors present two cases of Rosai-Dorfman disease (RDD), diagnosed through immunohistochemistry, with different progressions, one with complete remission and one culminating in death, highlighting the variety of presentations and the diagnostic difficulty...

Histiocytosis is a set of distinct proliferative illnesses defined by the proliferation and infiltration of varied numbers of dendritic cells, macrophages, and monocytes in the afflicted tissues. The skin and other organs may be impacted by the inflammatory infiltration. It can occur at any age. The severity of the symptoms can range from mild to severe, depending on the degree and type of organ involvement. Although certain forms of histiocytosis can be fatal, others can be treated successfully without sequelae...

A radiologically diagnosed tumor in a 29-year-old woman with a fever of around 39 °C was operated on under the suspicion of cholecystitis or a liver abscess. A solid tumor was found in the adrenal gland and resected. The frozen section findings did not reveal a clear diagnosis of entity and assignment. Histologically, the tumor was found to consist of densely clustered large histiocyte-like cells with expression of vimentin, CD68, and CD163 as well as negativity for keratin, langerin, and SMA...

BACKGROUND: ALK-positive histiocytosis is an exceptionally rare neoplasm of histiocytes that predominantly involves the nervous system and can also affect the skin and other parts of the body. Previous relevant literature has provided limited information regarding the imaging manifestations of this disease with neurological involvement. METHODS: We reported a case of ALK-positive histiocytosis with multisystem involvement. Together with a comprehensive literature review, the imaging characteristics of this disease in the nervous system were summarized...