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Indian Pediatrics Jun 2022
Topics: Glottis; Humans; Xanthogranuloma, Juvenile
PubMed: 35695144
DOI: No ID Found -
International Journal of Dermatology May 2024
PubMed: 38773781
DOI: 10.1111/ijd.17263 -
JAAD Case Reports Mar 2021
PubMed: 33598518
DOI: 10.1016/j.jdcr.2020.12.022 -
Ear, Nose, & Throat Journal Jul 2022
PubMed: 35791499
DOI: 10.1177/01455613221113795 -
International Ophthalmology Dec 2023To describe the clinicopathological features of a large cohort of patients with orbital histiocytoses and fibrohistiocytosis, such as Langerhans cell histiocytosis (LCH)... (Review)
Review
PURPOSE
To describe the clinicopathological features of a large cohort of patients with orbital histiocytoses and fibrohistiocytosis, such as Langerhans cell histiocytosis (LCH) and non-LCH disorders, and correlate patients' clinical characteristics with their pathological diagnosis.
METHODS
In this retrospective study, medical records of patients presenting to Farabi Eye Hospital, a tertiary eye care center in Tehran, Iran, from 2010 until 2022, were reviewed. Patients' demographics, chief complaint, location and laterality of the tumor, best-corrected visual acuity, presence of bone erosion on imaging, and their pathological diagnosis were retrieved. Excisional biopsy was performed and evaluated through light microscopy and immunohistochemistry study for their respective markers, including CD1a, CD68, CD207, and S100.
RESULTS
A total of 117 patients with 11 pathological subtypes of histiocytoses and fibrohistiocyosis were identified, with 56.4% male and 43.6% female patients. The mean age at presentation was 23.4 years (range 1.5 months-73 years). Swelling and palpable mass were the most common chief complaints. LCH was the most common pathology (32.5%), followed by juvenile xanthogranuloma (26.5%) and adult xanthogranuloma (21.4%). Age, lesion location, and bone erosion had a statistically significant difference among the various diagnosed subtypes.
CONCLUSIONS
Histiocytoses and fibrohistiocytosis are diverse and rare disorders potentially involving multiple organ systems. Ophthalmic manifestations of these diseases are even more uncommon. We reviewed their orbital presentation along with their respective histopathological findings. Our results also suggested that an orbital CT scan can be of diagnostic value to discriminate LCH from other histiocytic pathologies.
Topics: Adult; Humans; Male; Female; Infant; Retrospective Studies; Iran; Histiocytosis, Langerhans-Cell; Immunohistochemistry; Biopsy
PubMed: 37840073
DOI: 10.1007/s10792-023-02903-y -
Graefe's Archive For Clinical and... Jul 2022Solitary eyelid juvenile xanthogranuloma (JXG) is extremely rare, and there is limited literature on its clinical features and treatment outcomes. Here, we present a... (Review)
Review
PURPOSE
Solitary eyelid juvenile xanthogranuloma (JXG) is extremely rare, and there is limited literature on its clinical features and treatment outcomes. Here, we present a case series and comprehensive review of the literature on patients with isolated eyelid JXG.
METHODS
We systematically extracted data from our institution's records of isolated eyelid JXG cases and conducted a search for additional cases from the literature utilising the PubMed, Wanfang, and Chinese National Knowledge Infrastructure (CNKI) databases. Patients with JXG were analysed with respect to age, sex, clinical presentation, therapy, and outcome. Group comparisons were performed.
RESULTS
Thirty-two patients (including 13 at our institution and 19 from prior publications) were identified. The median age at first presentation was higher in current patients than in the patients from the published cases (median 9 years, range 1.2 to 47.0 years; median 2 years, range 0.5 months to 46.0 years, respectively, P = 0.014). Of the patients who had known characteristics, no significant differences were observed between the two groups in terms of sex, affected eye, eyelid site, type of cutaneous involvement, or duration of symptoms (each P > 0.05). Seventeen (54.8%) patients were male. The most common lesion location was the upper eyelid (n = 10, 62.5%). Twenty-four (75.0%) cutaneous lesions had full-thickness skin involvement; 8 (25.0%) subcutaneous masses had a chalazion-like appearance. Histologically, the JXG masses were characterised by Touton giant cells with inflammatory cells. Additionally, there was no significant difference in treatment modalities between the two groups (P = 0.072), and 24 (75.0%) patients underwent surgical excision. The overall recurrence-free survival was 3.6 to 52.8 (median 27.0) months in the current patients. For published cases with available follow-up information, there was no recurrence in 10 cases and improvement in 1 case, with a median follow-up of 9.5 months.
CONCLUSION
Solitary eyelid JXG is a rare clinical entity and should be included in the differential diagnosis of eyelid mass lesions in patients of all age groups. Surgical excision is often selected for efficient treatment and to obtain an excisional biopsy.
Topics: Biopsy; Child, Preschool; Diagnosis, Differential; Eyelids; Female; Humans; Infant; Male; Treatment Outcome; Xanthogranuloma, Juvenile
PubMed: 35084531
DOI: 10.1007/s00417-022-05560-6 -
Frontiers in Medicine 2020Several dermoscopic features of juvenile xanthogranuloma (JXG) have been previously described in single cases or small case series and need to be further verified in a...
Several dermoscopic features of juvenile xanthogranuloma (JXG) have been previously described in single cases or small case series and need to be further verified in a large sample. We aimed to investigate the dermoscopic patterns of JXG in a large case series and the correlations of these with clinical features of different histopathological subtypes of JXG. Patients who underwent dermoscopic evaluation and had a histopathological diagnosis of JXG were recruited. Histological findings, including stage and Ki67 proliferative index and the dermoscopic features of each lesion were recorded. Forty-one patients with JXG were included. The male to female ratio was 1.28: 1 and the median age of onset was 11 months (range: 0-95 months). Fourteen lesions were histologically categorized in the early stage, 17 in the developed stage, and 10 in the late stage. The "setting sun" pattern was observed in 35 lesions (85.4%) and "clouds" of paler yellow areas in 26 lesions (63.4%). The frequency of the "setting sun" pattern was higher in the early and developed stages (30/31) than in the late stage (5/10) ( = 0.002), while that of "clouds" of paler yellow areas was not significantly different between each stage. Branched linear vessels were detected in the early (11/14) and developed stage (6/17), but not in the late stage. The mean Ki67 index of the lesions with linear vessels was 11.8% (range: 2-40%), which was higher than that of lesions without linear vessels (mean index: 5%, range: 1-30%) ( = 0.005). The pigment network and whitish areas were only detected in 6 and 5 lesions in the late stage, respectively. The whitish areas presented either as streak or stellate shape. The pigment network exhibited either in a centric or a peripheral pattern. The "setting sun" pattern is the characteristic dermoscopic features of JXG in the early and developed stages, while whitish areas and pigment network are the characteristic patterns in the late stage. Linear vessels present as branched patterns and mostly occur in the early stage with a high proliferative index, indicating rapid growth. The whitish areas and pigment network may present in various patterns. Dermoscopy is a useful adjunctive tool in the diagnosis and staging of JXG.
PubMed: 33521026
DOI: 10.3389/fmed.2020.618946 -
Radiographics : a Review Publication of... 2021Histiocytosis is a rare inflammatory process characterized by pathologic infiltration and accumulation of cells derived from the monocytic lineage in normal tissue. It... (Review)
Review
Histiocytosis is a rare inflammatory process characterized by pathologic infiltration and accumulation of cells derived from the monocytic lineage in normal tissue. It encompasses more than 100 different subtypes of disorders that were recently classified into five main groups: Langerhans-related histiocytosis, Rosai-Dorfman histiocytosis, cutaneous and mucocutaneous histiocytosis, malignant histiocytosis, and hemophagocytic lymphohistiocytosis and macrophage activation syndrome. Langerhans cell histiocytosis is the most common histiocytic disorder. Less common types include Erdheim-Chester disease, Rosai-Dorfman disease, adult and juvenile xanthogranuloma, necrobiotic xanthogranuloma, histiocytic sarcoma, interdigitating dendritic cell sarcoma, Langerhans cell sarcoma, and hemophagocytic lymphohistiocytosis. Although the pathogenesis of these disorders may be attributable to mutations in the oncogenic driver, recent discoveries have shown that inflammation and fibrosis secondary to mutated histiocytes, rather than a proliferative cell mechanism, result in manifestation of the disease. Diagnosis, which relies on a multidisciplinary approach, is challenging and often delayed because clinical findings are nonspecific and may mimic malignant processes at radiologic evaluation. Compared with conventional imaging, PET/CT allows detection of the increased metabolic activity in histiocytes. Diagnostic algorithms for histiocytic disorders should include functional imaging with fluorine 18 (F) fluorodeoxyglucose (FDG) PET/CT, which provides a comprehensive whole-body evaluation of their potential involvement with multiple organ systems and allows monitoring of therapeutic response. The most recent revised classification, pathophysiologic and clinical manifestations, sites of involvement, and imaging features of histiocytosis are described in this review and a multimodality approach is used, with emphasis on F-FDG PET/CT evaluation. RSNA, 2021.
Topics: Dendritic Cells; Histiocytosis; Histiocytosis, Langerhans-Cell; Histiocytosis, Sinus; Humans; Macrophages; Multimodal Imaging; Neoplasms; Positron Emission Tomography Computed Tomography
PubMed: 33606566
DOI: 10.1148/rg.2021200096 -
Journal of Clinical and Experimental... Mar 2022Histiocytic neoplasms, such as Langerhans cell histiocytosis (LCH) and disseminated juvenile xanthogranuloma (JXG), can involve the liver and sometimes cause liver...
Histiocytic neoplasms, such as Langerhans cell histiocytosis (LCH) and disseminated juvenile xanthogranuloma (JXG), can involve the liver and sometimes cause liver failure. We aimed to classify non-LCH histiocytic proliferating disorders that do not exhibit typical disseminated JXG histology. We examined four pediatric patients who presented with liver failure and splenomegaly. Two patients with liver cirrhosis without cholestasis underwent liver transplantation (LT). The other two patients presented with giant cell hepatitis causing neonatal/infantile acute liver failure (ALF). The infantile ALF patient also underwent LT. Liver dysfunction developed after LT in all three transplant cases and the grafts exhibited massive sinusoidal infiltration of histiocytes with hemophagocytosis, similar to the native liver. The neonatal ALF patient was treated with an LCH-type chemotherapy regimen, and is alive and well at 18 months. Infiltrating histiocytes were positive for CD68 and CD163, and negative for CD1a, CD207, and S-100 protein. The BRAF V600E mutation was not present. Liver histological findings were not consistent with conventional disseminated JXG or LCH, although the histological findings in other organs overlapped those of well-known histiocytic neoplasms. The histological and immunohistochemical findings of infiltrating histiocytes suggest that these four cases constituted a disseminated JXG-like systemic disease.
Topics: Child; Histiocytes; Histiocytosis, Langerhans-Cell; Humans; Liver Failure; Xanthogranuloma, Juvenile
PubMed: 34840207
DOI: 10.3960/jslrt.21022 -
BMC Oral Health Dec 2022Juvenile Xanthogranuloma (JXG) is a non-hereditary, self-limiting disease which is usually presented in infancy or early childhood and in males over females.
BACKGROUND
Juvenile Xanthogranuloma (JXG) is a non-hereditary, self-limiting disease which is usually presented in infancy or early childhood and in males over females.
CASE PRESENTATION
We report a rare case of oral Juvenile Xanthogranuloma with recurrent progressive gingival hyperplasia and concomitant presentation of osteolysis in a 21-year-old adult male with no significant medical history. Patient presented with generalized gingival hyperplasia, osteolysis of the maxilla and mandible, and a round, firm, nodular mass with clear circumference on the left shoulder. Results of gingival tissue biopsy, karyotype, bone marrow biopsy and immunohistochemistry were suggestive of a diagnosis of Juvenile Xanthogranuloma with no association to hematologic malignancy. Unfortunately, patient declined treatment and elected to be transferred back to local hospital for future evaluation.
CONCLUSIONS
Juvenile Xanthogranuloma in adults can have atypical manifestations including generalized gingival hyperplasia and osteolysis of the maxilla and mandible. It should be differentiated between Langerhans cell histiocytosis, Papillon-Lefevre Syndrome, and Pyogenic Granulomas. Despite uncommon incidence, it should be included in differential diagnoses in cases of similar clinical presentations.
Topics: Female; Humans; Adult; Male; Child, Preschool; Young Adult; Xanthogranuloma, Juvenile; Osteolysis; Gingival Hyperplasia; Histiocytosis, Langerhans-Cell; Immunohistochemistry
PubMed: 36529720
DOI: 10.1186/s12903-022-02643-y