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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 -
Romanian Journal of Ophthalmology 2017Juvenile xanthogranuloma (JXG) is a benign histiocytic skin disorder mainly encountered during infancy and childhood. Although with multiple potential localizations,... (Review)
Review
Juvenile xanthogranuloma (JXG) is a benign histiocytic skin disorder mainly encountered during infancy and childhood. Although with multiple potential localizations, less than 1% of the cases exhibit ocular manifestations. Some of these might lead to serious complications, specifically, secondary glaucoma that can result in severe and blinding eye disease. The aim of the present case report was to demonstrate typical clinical features, emphasize the difficulties attributed when managing these patients and literature review. We present the case of 4 months old female baby with spontaneous hyphema and secondary unilateral glaucoma due to ocular JXG. The natural history and treatment of the condition were extremely difficult to handle due to multiple opinions in histopathology related to other severe conditions that resembled with the lesions detected in this case: myelomonocytic leukemia and Langerhans cell histiocytosis. Although a minority of patients with JXG have ocular involvement, recognition of this condition is important because a treatment delay can lead to serious complications, such as glaucoma and spontaneous hyphema, as in our case. A thorough differential diagnosis represents the key to a proper management plan in these patients, both on short and long term. "Triple disease" defined as JXG plus neurofibromatosis type 1 (NF-1) and juvenile chronic myelogenous leukemia (JCML) has been reported, but it was not confirmed in our patient.
Topics: Female; Glaucoma; Humans; Hyphema; Infant; Iris; Neurofibromatosis 1; Xanthogranuloma, Juvenile
PubMed: 29450403
DOI: 10.22336/rjo.2017.41 -
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 -
Pediatric Dermatology 2014A 5-month-old boy had erythematous nodules over the left side of his trunk with a segmental arrangement since birth. Histopathologic examination revealed sheets of foamy...
A 5-month-old boy had erythematous nodules over the left side of his trunk with a segmental arrangement since birth. Histopathologic examination revealed sheets of foamy histiocytes infiltrating the dermis and subcutaneous fat, admixed with multinucleated giant cells and lymphocytes, making this an unusual case of juvenile xanthogranuloma appearing in a segmental distribution.
Topics: Biopsy; Diagnosis, Differential; Humans; Infant; Male; Xanthogranuloma, Juvenile
PubMed: 23889163
DOI: 10.1111/pde.12199 -
Journal of Cutaneous Medicine and... 2018Juvenile xanthogranuloma (JXG) is a member of the non-Langerhans cell group of proliferative disorders of mononuclear phagocytes. JXG is a benign tumour of histiocytic... (Review)
Review
Juvenile xanthogranuloma (JXG) is a member of the non-Langerhans cell group of proliferative disorders of mononuclear phagocytes. JXG is a benign tumour of histiocytic cells. Classic JXG is divided into 2 main clinical subtypes: dome-shaped papules (<0.5 cm) and single/multiple nodules (<2.0 cm). A rare variant is referred to as giant; this term encompasses JXG lesions larger than 2.0 cm. In this article, we report a case of a congenital cutaneous giant JXG. In addition, we reviewed and analyzed all cases (n = 51) of giant JXG reported in the English literature. We propose an algorithm for classifying giant JXG based on the following factors: onset of lesions (congenital and acquired), number of lesions (solitary ± satellites and multiple), morphology of cutaneous/mucosal lesions (plaque, nodular, ulcerated-nodular, macular, and other), and extracutaneous manifestations.
Topics: Female; Humans; Infant; Male; Skin; Thigh; Xanthogranuloma, Juvenile
PubMed: 29783860
DOI: 10.1177/1203475418777734 -
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 -
Der Hautarzt; Zeitschrift Fur... Jul 2017Clinical manifestations of granulomatous diseases are a recurring challenge in everyday dermatological practice. Clinical presentation and histological patterns are... (Review)
Review
Clinical manifestations of granulomatous diseases are a recurring challenge in everyday dermatological practice. Clinical presentation and histological patterns are variable, depending on the particular disease. Knowledge about the differential diagnosis of granulomatous changes in the face is of decisive importance for making a rational diagnosis and therapy considering the patient's well-being. Therefore, histological and clinical characteristics of important granulomatous diseases that typically manifest on the face are presented here.
Topics: Biopsy; Diagnosis, Differential; Facial Dermatoses; Foreign-Body Reaction; Granuloma; Granuloma Annulare; Humans; Necrobiotic Xanthogranuloma; Rosacea; Sarcoidosis; Skin; Skin Diseases, Infectious; Vasculitis; Xanthogranuloma, Juvenile
PubMed: 28593339
DOI: 10.1007/s00105-017-3994-4