Cases reported "Histiocytosis"

Filter by keywords:



Filtering documents. Please wait...

1/57. Evidence for a hybrid macrophage phenotype in erythrophagocytic histiocytosis.

    PURPOSE: The phenotype of the proliferating cells in two patients with erythrophagocytic histiocytosis is described. These 6- and 18-month-old female patients presented with fever, anemia, hepatosplenomegaly, and lymphadenopathy. MATERIALS AND methods: Clinical histories were reviewed, and pathological specimens of both patients were studied by histology, and electron microscopy/immunohistochemistry using antibodies against macrophage and Langerhans cell (LC) antigens. RESULTS: histology revealed prominent erythrophagocytosis of proliferating histiocytes. By immunohistochemistry, conventional macrophage (HAM-56, alpha 1-antitrypsin, alpha 1-antichymotrypsin, lisozyme, CD68, and alpha-subunit of S-100 protein) and LC (CD1a and S-100 protein) markers were positive, as well as double labeling for CD1a and alpha 1-antichymotrypsin, in a majority of proliferating cells. Ultrastructural examination revealed Birbeck granules and prominent phagolysosomes frequently in the same cell. CONCLUSIONS: The hybrid ultrastructural and immunohistochemical phenotype between phagocytic macrophage and LC of proliferating histiocytes supports the common origin of these different histiocyte subtypes. This unusual phenotype might be the expression of the proliferating (hybrid) precursor or be the effect of unknown stimuli. Additional cases of childhood erythrophagocytic histiocytosis should be studied with immunophenotyping and ultrastructure to determine whether the hybrid phenotype represents a specific entity or an epiphenomenon.
- - - - - - - - - -
ranking = 1
keywords = macrophage
(Clic here for more details about this article)

2/57. listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-gamma-receptor (IFNgammaR1) deficiency: mutational analysis and evaluation of therapeutic options.

    We describe the history of a girl with interferon-gamma-receptor (IFNgammaR1) deficiency and studies performed to identify the molecular and clinical characteristics of this recently discovered disorder. This is the first report of a child from Northern europe with IFNgammaR1 deficiency. The patient, now 7 years old, first presented with swelling and reddening at the Bacille Calmette-Guerin (BCG) vaccination site, swelling of lymph nodes, hepatomegaly, and an unusually severe varicella rash at the age of 4 months. At that time, she was diagnosed with BCG histiocytosis without typical granuloma formation and was treated with antituberculous agents. During the clinical course of her illness, several different types of atypical mycobacteria and (for the first time in an IFNgammaR1-deficient patient) listeria monocytogenes were detected. Flow cytometric analysis showed that the patient's monocytes could not bind a monoclonal antibody specific for the IFNgamma-receptor. Our analysis of mRNA derived from the alpha-chain (IFNgammaR1) gene of this receptor revealed deletions of 173 bp and 4 bp in cDNA sequences originating from individual alleles. The 173 bp deletion was located between nucleotide positions 200 and 372, exactly matching those of exon 3, and the 4 bp deletion was located between nucleotide positions 561 and 564 of the coding region of the cDNA. Analysis of genomic dna revealed the presence of a G to T transition at the 5'end of the splice consensus sequence of intron 3, which explains the absence of exon 3. The other allele carried the 4-base-pair deletion (ACTC) at nucleotide positions 15-18 of exon 5. Twelve months after an allogeneic bone marrow transplantation, the patient had clinically improved.
- - - - - - - - - -
ranking = 0.00011412235590406
keywords = bone
(Clic here for more details about this article)

3/57. The role of bone scintigraphy in patients with erdheim-chester disease.

    erdheim-chester disease (ECD) is a rare disorder that has been reported fewer than 60 times in the literature. Although clinical findings seem to be specific at first sight, histologic classification remains unclear. It has not been decided whether ECD is part of the spectrum of histiocytoses or whether it may be a lipid storage disorder or even a primary macrophage cell disorder, although it does show a distinct histologic pattern. However, the clinical appearance alone shows several typical features, rendering the diagnosis very probable if present. This article illustrates the importance of bone scanning in ECD, because the scintigraphic pattern of involved skeletal sites may in themselves lead to the diagnosis. Several differential diagnoses are considered. The importance of bone scintigraphy as an imaging method in patients with an unclear diagnosis is discussed, as exemplary in ECD, as is its role for the detection of sites of skeletal involvement in other diseases.
- - - - - - - - - -
ranking = 0.14354187699257
keywords = macrophage, bone
(Clic here for more details about this article)

4/57. "Coated aorta": a new sign of erdheim-chester disease.

    erdheim-chester disease is a rare, non-Langerhans cell form of histiocytosis characterized by osteosclerosis of the metaphyseal regions of long bones, diabetes insipidus, proptosis, and retroperitoneal fibrosis. The latter usually involves the perirenal area and leads to hydronephrosis. Periaortic fibrosis is less frequent. We describe 3 unusual cases of erdheim-chester disease with periaortic fibrosis involving the whole aorta and leading to a "coated aorta" appearance on computed tomography scans. Faced with such a singular "coated aorta," bone scintigraphy can be very helpful when searching for Erdheim-Chester disease.
- - - - - - - - - -
ranking = 0.00022824471180813
keywords = bone
(Clic here for more details about this article)

5/57. erdheim-chester disease of the jaws: literature review and case report.

    erdheim-chester disease is a rare systemic lipogranulomatous disorder of adults that shares some histopathologic features similar to Langerhans' cell histiocytosis and that results in characteristic radiographic changes in the long bones. Relatively few cases have been reported in the jaws. We present a literature review of jaw cases and the first case report to describe detailed radiographic and pathologic features of jaw involvement, as well as clinical, radiographic, and histopathologic follow-up of the untreated jaw lesions.
- - - - - - - - - -
ranking = 0.00011412235590406
keywords = bone
(Clic here for more details about this article)

6/57. erdheim-chester disease: two cases of orbital involvement.

    erdheim-chester disease (ECD) is an increasingly recognised form of fibro-inflammatory process characterised by xanthomatous histiocytes containing large amounts of ingested lipid, plasma cells, macrophages and Touton-type giant cells. Ophthalmic involvement in ECD has been reported in only 22 cases. We describe two patients, one presenting with diabetes insipidus and subsequently developing orbital pseudotumours and retroperitoneal fibrosis, the other presenting with exophthalmos and diplopia. The first patient was treated with cladribine and subsequently developed sudden onset of bilateral blindness while the second required radiation therapy for the retro-orbital process and developed radiation retinopathy. These cases typify the variable presentation and course in patients with ECD.
- - - - - - - - - -
ranking = 0.14285714285714
keywords = macrophage
(Clic here for more details about this article)

7/57. erdheim-chester disease.

    erdheim-chester disease (ECD) is a rare histiocytic infiltrative disease, characterized by long bone sclerosis.We describe two confirmed cases of ECD, both of which demonstrate non-malignant retroperitoneal and peri-renal infiltration causing dilatation of the upper renal tracts. The cases are illustrated with contrast studies, computed tomography (CT) and magnetic resonance imaging (MRI). Typical sclerosis of the long bones was apparent on radiography. Both cases have been treated conservatively to date.A brief review of the literature regarding the manifestations of ECD is included. In cases of non-malignant retroperitoneal infiltration, ECD should be considered as a diagnosis and radiographs of the long bones performed.
- - - - - - - - - -
ranking = 0.00034236706771219
keywords = bone
(Clic here for more details about this article)

8/57. Cutaneous indeterminate cell histiocytosis: a new spindle cell variant resembling dendritic cell sarcoma.

    BACKGROUND: Cutaneous indeterminate cell histiocytosis is a rare neoplastic disorder. Its varied histological presentation and rarity have limited efforts to determine its pathogenic relationship with other histiocytic lesions and possibly, its recognition. methods: We report on an unusual histologic pattern of indeterminate cell histiocytosis that resembled follicular dendritic sarcoma. A battery of immunohistochemical stains and electron microscopy were performed to elucidate the phenotype of the "histiocytic" cells. Based on a review of the literature, reported cases of indeterminate cell histiocytosis are presented and the diagnostic differential of spindle-cell lesions is discussed. RESULTS: Spindling histiocytes were positive for S-100 and CD1a. The monocytic/macrophage marker, CD68, and the dendritic cell marker, CD21, were negative. Electron microscopy failed to reveal Birbeck granules. CONCLUSIONS: Relatively few reports of indeterminate cell histiocytosis exist, some of which include discussion of potential overlaps with the non-X histiocytoses. Although the presence of prominent spindling in our case expanded the differential to include non-histiocytic disorders, the identified histiocytes unequivocally fulfilled the criteria of S-100 and CD1a positivity without demonstrable Birbeck granules.
- - - - - - - - - -
ranking = 0.14285714285714
keywords = macrophage
(Clic here for more details about this article)

9/57. Extranodal marginal zone B-cell lymphoma of the lacrimal gland associated with crystal-storing histiocytosis.

    OBJECTIVE: Crystal-storing histiocytosis (CSH) is a very rare immunoglobulin (Ig) deposition disorder that can be associated with B-cell neoplasms as well as some reactive Ig-secreting lymphoproliferative disorders. This article reports the clinical, histopathologic, and molecular biologic findings of CSH in association with an extranodal marginal zone lymphoma (EMZL) of the lacrimal gland. DESIGN: Interventional case report with clinicopathologic correlation. INTERVENTION: Treatment consisted of conjunctival and orbital biopsies, as well as low-dose radiation of the left orbit. methods: Histopathologic findings of the conjunctival and orbital biopsies were compared. Further, extensive immunohistochemistry, polymerase chain reaction (PCR) for the detection of Ig heavy chain (IgH) gene rearrangement, Gene Scan analysis, and dna sequencing were performed on all tissues. RESULTS: The tumor manifestations in the specimens demonstrated a similar morphologic and immunophenotypic characteristics consistent with the diagnosis of EMZL. Immunoglobulin H PCR and Gene Scan analysis showed B cells derived from the same clone. In association with the orbital EMZL were large accumulations histiocytes filled with refractile crystals, consistent with the diagnosis of CSH. CONCLUSIONS: The current case describes an EMZL of the lacrimal gland appearing 5 years after excision and low-dose radiation of a conjunctival lymphoma. The orbital recurrence was associated with surrounding CSH, a rare Ig storage disorder more often reported in patients with multiple myeloma or lymphoplasmacytic lymphoma or immunocytoma. Ophthalmic pathologists should be aware of the diagnosis when reviewing orbital biopsies, because difficulties may arise when the crystal-storing macrophages occupy more tissue space than the Ig-secreting cells or when they resemble cell types such as rhabdomyoblasts.
- - - - - - - - - -
ranking = 0.14285714285714
keywords = macrophage
(Clic here for more details about this article)

10/57. Multiple system erdheim-chester disease with massive hypothalamic-sellar involvement and hypopituitarism.

    erdheim-chester disease (ECD) is a rare multiple system histiocytosis that is characterized pathologically by xanthogranulomatous infiltrates and radiologically by symmetrical sclerosis of long bones. The diagnosis is often confirmed by biopsy of bone or of orbital or retroperitoneal soft tissue. Intracranial involvement is rare. The authors report a case of ECD in which the diagnosis was made after biopsy of a hypothalamic mass. The mass had been discovered during a workup for panhypopituitarism in a 55-year-old man with urological and bone disease. Aside from diabetes insipidus, other features of pituitary insufficiency have seldom been reported and no patients have presented with a hypothalamic tumor. The endocrinological and neurological aspects of ECD are discussed, as is its differential diagnosis. Reported cases of the disorder associated with hypopituitarism or found during biopsy of central nervous system structures are also reviewed.
- - - - - - - - - -
ranking = 0.00034236706771219
keywords = bone
(Clic here for more details about this article)
| Next ->


Leave a message about 'Histiocytosis'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.