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#29058834   2017/10/23 Save this To Up

[Difficult diagnosis of Erdheim Chester disease revealed by central diabetes insipidus].

The Erdheim Chester disease is a rare form of non Langerhans cell histiocytosis. Its rarity and its unspecific clinical presentation, make that its diagnosis is often delayed. We report the case of a 50 years old female who has an Erdheim Chester disease, revealed by a central diabetes insipidus with thickening of the pituitary stalk, with associated gonadotropin deficiency. The Erdheim Chester disease was suspected because of the association with other evocative systemic lesions: eyelid xanthelasmas and bone lesions in metaphyseal-diaphyseal region of the upper and lower ends of both femurs and tibias on bone scan. Confirmation of the diagnosis was initially difficult and delayed, with initially inconclusive cutaneous and bone biopsies. It is the histological re-reading with immunohistochemical study of the bone biopsies which allowed the diagnosis by showing histiocytes positive for the CD68 and negative for the CD1a and the protein S100. The diagnosis was made with a delay of 3 years. In conclusion, although rare, Erdheim Chester disease should be suspected in front of a set of clinical and radiological arguments. Diagnostic confirmation is based on histological and especially immunohistochemical studies.

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#29058323   2017/10/23 Save this To Up

CD1a-positive cutaneous mastocytosis: Electron microscopic evidence of pleomorphic mast cell proliferation.


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#29043148   2017/10/18 Save this To Up

Membranoproliferative glomerulonephritis associated with Rosai-Dorfman disease.

Rosai-Dorfman disease is also known as sinus histiocytosis with massive lymphadenopathy. Extranodal Rosai-Dorfman disease has been reported in ~ 43% of cases; the most frequent extranodal sites - skin, soft tissue, bone, respiratory tract, and eye - are usually involved in association with lymphadenopathy. Lack of lymph node involvement is rare, especially when patients manifest renal disease. Here, we describe a patient who developed membranoproliferative glomerulonephritis when lymphadenopathy was absent. During follow-up for sinus histiocytosis, a 7-year-old Japanese boy developed proteinuria and hematuria. No renal abnormality was present in ultrasound imaging. Histologic examination of a renal biopsy specimen disclosed moderate mesangial proliferation, focal thickening of glomerular capillary walls, and mesangial interposition. Mononuclear cells infiltrated the interstitium. Immunofluorescence showed intense IgG, C3, and C4 reactivity in portions of the mesangium and glomerular capillary walls. Electron microscopy depicted nodular deposits in mesangial, endocapillary, and subepithelial areas. Immunohistochemistry for S-100 protein, CD68, and lysozyme was positive within the interstitium. CD1a staining was absent. These findings were diagnostic for membranoproliferative glomerulonephritis. Multidrug therapy, including methylprednisolone and mizoribine, improved urinary findings and induced complete remission of both diseases. To the best of our knowledge, this is the first report of Rosai-Dorfman disease complicated by renal disease in the absence of concurrent nodal involvement. Clinicians should be alert to this diagnostic possibility.

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#29026568   2017/10/13 Save this To Up

A rare case of CD1a-negative Langerhans cell histiocytosis of the central nervous system in a child.

Langerhans cell histiocytosis is a dendritic cell disorder with a wide spectrum of severity and presentations. Histopathology typically demonstrates a proliferation of Langerhans cells and a lymphohistiocytic inflammatory infiltrate with eosinophils. The diagnosis is supported by immunohistochemistry with the cell markers S100, CD1a, CD68, and Langerin [Blood, 126, 2015, 26 and N Engl J Med, 331, 1994, 154].

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#29025887   2017/10/13 Save this To Up

BRAF and NRAS mutations in circulating Langerhans-like CD1a(+) cells in a patient with pulmonary Langerhans' cell histiocytosis.


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#29025773   2017/10/13 Save this To Up

Erdheim-Chester disease: atypical presentation of a rare disease.

We report the clinical case of an adult patient referred to our hospital because of trismus due to a tumour in the right infratemporal and pterygomaxillary fossa. He referred hyporexia, weight loss and right trigeminal neuralgia. On physical examination, he had trismus and diplopia. On neuroimaging, the tumour invaded the central nervous system affecting the right temporal lobe and orbit, and the sellar region. Tumour biopsy revealed foamy histiocytes and isolated giant multinuclear cells immunoreactive to CD68 and negative to CD1a and S100. A diagnosis of Erdheim-Chester disease was made. Non-evidence of large bone involvement was found in neither plain radiographs nor Technetium 99 m bone scintigraphy. BRAFV600E mutation analysis was negative. Because of raised intracranial pressure, a debulking surgery of the intracranial histiocytic process was performed. The patient improved his symptoms and remains clinically stable after 12 months of treatment with pegylated interferon-α-2a 180 µg/weekly.

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#29023924   2017/10/12 Save this To Up

Decreased peritumoral CD1a+ cells predicts worse prognosis in oral squamous cell carcinoma.

Dendritic cells (DCs) are known to play a central role in the regulation of both innate and adaptive immunologic responses, including antitumor immunity. This study aimed to evaluate the prognostic impact of intra and peritumoral dendritic cells in oral squamous cell carcinoma (OSCC) affecting tongue and floor of the mouth.

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#29017411   2017/10/11 Save this To Up

Occult Langerhans Cell Histiocytosis in Clear Cell Renal Cell Carcinoma.

Langerhans cell histiocytosis is a rare disease that is characterized by a localized or systemic proliferation of Langerhans dendritic cells and a wide spectrum of clinical presentations. We experienced an unusual case of occult Langerhans cell histiocytosis associated with clear cell renal cell carcinoma. A 62-year-old man underwent a partial nephrectomy for left renal mass. Histologic examination showed nests of clear cells with surrounding thin-walled vessel that were suggestive of clear cell renal cell carcinoma. A well-defined nodule composed of atypical mononuclear cells and plentiful eosinophils presented within clear cell renal cell carcinoma. The mononuclear cells were Langerhans cell histiocytes with S-100 and CD1a immunoreactivity. On follow-up comprehensive physical, laboratory, and radiologic examination, there were no other lesions of Langerhans cell histiocytosis.

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#28990684   2017/10/09 Save this To Up

A new scenario in the immunohistochemical diagnosis of cutaneous leishmaniasis.


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#28969735   2017/10/03 Save this To Up

Langerhans Cell Histiocytosis Involving Both Jaws in an Adult.

Langerhans cell histiocytosis (LCH) is the latest terminology for a disorder of reticulo-endothelial system, previously known as histiocytosis X, and marked by aberrant proliferation of bone marrow derived Langerhans cells with variable inflammatory infiltrate including neutrophils, lymphocytes, plasma cells, eosinophils, and multinucleated giant cells. Although rare, the disorder frequently inflicts children with peak incidence recorded in 2-4 years age group. LCH is rare in adults. A22-year adult male presented with the complaint of teeth mobility. Orthopantomogram (OPG) revealed multiple extensive osteolytic lesions destroying both jaws. Giant cell granuloma, Paget's disease and LCH, along with other vanishing bone disorders (Gorham Stout disease and Winchester syndrome) were suspected differentials. Multiple incisional biopsies were performed and a diagnosis of LCH was confirmed by routine histopathological analysis followed by immunohistochemical staining for S-100 and CD1a.

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