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AJNR. American Journal of Neuroradiology Nov 2022Juvenile xanthogranuloma is a rare clonal, myeloid, neoplastic disorder. Typically, juvenile xanthogranuloma is a self-limited disorder of infancy, often presenting as a...
BACKGROUND AND PURPOSE
Juvenile xanthogranuloma is a rare clonal, myeloid, neoplastic disorder. Typically, juvenile xanthogranuloma is a self-limited disorder of infancy, often presenting as a solitary red-brown or yellow skin papule/nodule. A small subset of patients present with extracutaneous, systemic juvenile xanthogranuloma, which may include the CNS. The goal of this retrospective study was to evaluate and categorize the neuroimaging findings in a representative cohort of pediatric patients with CNS juvenile xanthogranuloma.
MATERIALS AND METHODS
The brain and/or spine MR imaging data of 14 pediatric patients with pathology-proven juvenile xanthogranuloma were categorized and evaluated for the location; the signal intensity of xanthogranulomas on T1WI, T2WI, DWI, and a matching ADC map for the pattern and degree of contrast enhancement; and the presence of perilesional edema, cysts, or necrosis.
RESULTS
Fourteen pediatric patients (8 girls, 6 boys; mean age, 84 months) were included in the study. Patients presented with a wide variety of different symptoms, including headache, seizure, ataxia, strabismus, hearing loss, facial paresis, and diabetes insipidus. Juvenile xanthogranuloma lesions were identified in a number of different sites, including supra- and infratentorial as well as intracranial and spinal leptomeningeal. Five patients were categorized into the neuroradiologic pattern unifocal CNS juvenile xanthogranuloma; 8, into multifocal CNS juvenile xanthogranuloma; and 1, into multifocal CNS juvenile xanthogranuloma with intracranial and spinal leptomeningeal disease. In most cases, xanthogranulomas were small-to-medium intra-axial masses with isointense signal on T1WI (compared with cortical GM), iso- or hyperintense signal on T2WI, had restricted diffusion and perilesional edema. Almost all xanthogranulomas showed avid contrast enhancement. However, we also identified less common patterns with large lesions, nonenhancing lesions, or leptomeningeal disease. Four cases had an additional CT available. On CT, all xanthogranulomas were homogeneously hyperdense (solid component) without evident calcifications.
CONCLUSIONS
CNS juvenile xanthogranuloma may demonstrate heterogeneous neuroimaging appearances potentially mimicking other diseases, such as primary brain neoplasms, metastatic disease, lymphoma and leukemia, other histiocytic disorders, infections, or granulomatous diseases.
Topics: Male; Female; Child; Humans; Xanthogranuloma, Juvenile; Retrospective Studies; Magnetic Resonance Imaging; Neuroimaging; Head
PubMed: 36265894
DOI: 10.3174/ajnr.A7683 -
Plastic and Reconstructive Surgery.... Jul 2021We treated a patient with juvenile xanthogranuloma on the upper lip. A yellow, elastic, hard tumor on the upper lip was evident from birth, which gradually increased in...
We treated a patient with juvenile xanthogranuloma on the upper lip. A yellow, elastic, hard tumor on the upper lip was evident from birth, which gradually increased in size. The patient was examined at our department at the age of 7 months, at which time the mass extended from the upper lip to the nasal cavity and measured approximately 1 cm. There was a risk that the mass might obstruct the nasal cavity, and an incisional biopsy was conducted to obtain a definitive diagnosis. In histopathological testing, the patient was diagnosed with a juvenile xanthogranuloma. Part of the mass still remains on the upper lip, but has not increased in size during postoperative monitoring. Juvenile xanthogranuloma on the upper lip is extremely rare, and to the best of our knowledge, this is only the fourth case to be reported in the plastic surgery literature in English. In most cases, juvenile xanthogranuloma regresses spontaneously, and unnecessary surgery is to be avoided. The possibility of juvenile xanthogranuloma should always be considered for masses that increase in size in infants and young children, and it is important to reach a definitive diagnosis by skin biopsy.
PubMed: 34290944
DOI: 10.1097/GOX.0000000000003712 -
[Rinsho Ketsueki] the Japanese Journal... 2022Histiocytosis is a syndrome characterized by fever, pain, and other symptoms caused by the neoplastic proliferation of atypical cells of the macrophage-dendritic cell...
Histiocytosis is a syndrome characterized by fever, pain, and other symptoms caused by the neoplastic proliferation of atypical cells of the macrophage-dendritic cell lineage and surrounding inflammatory cell infiltration. The diagnosis is confirmed by the immune-histological features of biopsied specimens. From this viewpoint, histiocytosis is divided into Langerhans cell histiocytosis (LCH) (CD1a+/CD207+/CD14±/CD68±) and non-LCH, including Erdheim-Chester disease (ECD), juvenile xanthogranuloma, and Rosai-Dorfman disease (CD1a-/CD207-/CD14++/CD68++). Genetic alterations occur at the cellular level in hematopoietic progenitor cells, and environmental factors are assumed to influence tumor development. The genomic analysis of the lesions involved revealed driver mutations primarily in the MAPK pathway, including BRAF-V600E, and the PI3K pathway. This strongly suggests that abnormalities in these signaling pathways play a role in pathogenesis. Steroids, vinca alkaloids, cytarabine, and cladribine are commonly used to treat histiocytosis. However, efficacy has not been fully confirmed in any of them. In recent years, the efficacy of BRAF inhibitors and MEK inhibitors has been reported mainly in therapy-resistant and refractory cases of LCH and ECD.
Topics: Erdheim-Chester Disease; Histiocytosis, Langerhans-Cell; Humans; Mutation; Phosphatidylinositol 3-Kinases; Protein Kinase Inhibitors; Proto-Oncogene Proteins B-raf; Xanthogranuloma, Juvenile
PubMed: 35662158
DOI: 10.11406/rinketsu.63.363 -
Journal of Pediatric Hematology/oncology Jun 2024Juvenile Xanthogranuloma (JXG) is a non-Langerhans cell histiocytosis, occurring mainly in infancy. With an extracutaneous lesion, its diagnosis is difficult, because of...
BACKGROUND
Juvenile Xanthogranuloma (JXG) is a non-Langerhans cell histiocytosis, occurring mainly in infancy. With an extracutaneous lesion, its diagnosis is difficult, because of a wide clinical spectrum. Here we demonstrate and characterize imaging features of 11 patients with JXG of the head and neck in various locations.
MATERIAL AND METHODS
We recorded clinical data and reviewed all imaging studies of 11 patients with JXG of the head and neck. Ultrasonography (US) alone was performed in 1 patient; MRI alone in 6 patients; US and MRI in 1 patient; and US, CT, and MRI in 3 patients. We evaluated the following characteristics in all studies: location and number of lesions, echogenicity and vascularization on US, density on CT, signal intensity on T1- and T2-weighted images, ADC and enhancement on MRI, and tumor boundaries and bone involvement.
RESULTS
Lesions were well-defined in 9 cases, and bone erosion was present in 2. On US, lesions were hypoechoic or hyperechoic and with or without vascularization. On CT, lesions were hyper-dense, with no calcification. On MRI, lesions were mildly hyper-intense or iso-intense on T1-weighted images in 8 of 9 patients, hypo-intense on T2-weighted images in 7 of 10, low ADC in 7 of 9, and enhancement in 7 of 7.
CONCLUSIONS
The diagnosis of extra cutaneous JXG may be proposed, with the following suggestive criteria: age < 1 year, well-defined lesion, mild hyper-intensity on T1-weighted images, hypo-intensity on T2-weighted images, low ADC, enhancement, and possible adjacent bone involvement.
PubMed: 38832444
DOI: 10.1097/MPH.0000000000002872 -
Actas Dermo-sifiliograficas Dec 2019
Topics: Child, Preschool; Fingers; Hand Dermatoses; Humans; Male; Skin Diseases, Papulosquamous; Xanthogranuloma, Juvenile
PubMed: 31130243
DOI: 10.1016/j.ad.2018.05.014 -
Ocular Immunology and Inflammation 2022To report a case an iris juvenile xanthogranuloma presenting with hypopyon.
PURPOSE
To report a case an iris juvenile xanthogranuloma presenting with hypopyon.
CASE REPORT
A 45-day-old infant was referred to our clinic for unilateral hypopyon. Slit-lamp examination revealed a 2 mm hypopyon in the left eye while visible areas of the iris were normal. Fundus examination was normal. Topical corticosteroids and antibiotics were initiated. The hypopyon regressed to 0.5 mm after 2 weeks of treatment. The now visible peripheral iris revealed an inferotemporal yellow-brown iris mass. Clinical findings were consistent with juvenile xanthogranuloma of the iris. The patient was referred to the pediatrics department which revealed no systemic involvement. Two months after total regression of hypopyon, the baby presented with a 3 mm spontaneous hyphema causing 50 mmHg intraocular pressure. The patient was followed with topical corticosteroids and antiglaucomatous drops until the hyphema was resolved.
CONCLUSION
ocular involvement, which is the most common extracutaneous 15 manifestation of juvenile xanthogranuloma, should be considered in the differential diagnosis of hypopyon and/or hyphema in young children.
Topics: Child; Humans; Child, Preschool; Xanthogranuloma, Juvenile; Iris
PubMed: 34228593
DOI: 10.1080/09273948.2021.1936077 -
Clinics in Perinatology Mar 2021Langerhans cell histiocytosis, Rosai-Dorfman disease, and juvenile xanthogranuloma may present at birth or any time afterward. Some patients have minimal skin or lymph... (Review)
Review
Langerhans cell histiocytosis, Rosai-Dorfman disease, and juvenile xanthogranuloma may present at birth or any time afterward. Some patients have minimal skin or lymph node involvement, but others present with life-threatening pulmonary, hepatic, bone marrow, or central nervous system lesions. There is often a delay in diagnosis because of confusing overlap with more common neonatal diseases. Many treatment regimens have been applied to these diseases, but those directed at myeloid cells, such as cytarabine and clofarabine or mutation-targeting inhibitors, are gaining favor. This article provides information on the pathophysiology, clinical presentation, evaluation guidelines, and treatment of these uncommon tumors of neonates.
Topics: Histiocytosis, Langerhans-Cell; Histiocytosis, Sinus; Humans; Mutation; Skin; Xanthogranuloma, Juvenile
PubMed: 33583503
DOI: 10.1016/j.clp.2020.11.008 -
International Medical Case Reports... 2020Juvenile Xanthogranuloma (JXG) is a relatively uncommon non-Langerhans cell histiocytosis, which often occurs at an early age and is usually asymptomatic. Herein, we...
Juvenile Xanthogranuloma (JXG) is a relatively uncommon non-Langerhans cell histiocytosis, which often occurs at an early age and is usually asymptomatic. Herein, we present the case of a 17-year-old man with numerous asymptomatic yellow-brown papulonodular lesions with a symmetric distribution on upper and lower extremities, face, and trunk, developed over the past 4 years. In the histopathologic examination, histiocytes with a Touton-like appearance were observed in favor of xanthogranuloma. The patient was treated with isotretinoin 20 mg daily for 2 months, which surprisingly led to the progression of lesions and thus was discontinued. Although JXG may cause severe morbidities in some circumstances, it is a self-limiting benign disorder and patients should be assured regarding the benign self-regressive nature of the disease.
PubMed: 32158278
DOI: 10.2147/IMCRJ.S240115 -
Journal of Current Glaucoma Practice 2022To report an ocular juvenile xanthogranuloma (JXG) case presented with buphthalmos, corneal cloudiness, and normal intraocular pressure (IOP) in the neonatal period and...
AIM
To report an ocular juvenile xanthogranuloma (JXG) case presented with buphthalmos, corneal cloudiness, and normal intraocular pressure (IOP) in the neonatal period and treated with Ahmed glaucoma valve (AGV) implantation.
BACKGROUND
JXG is a rare disorder predominantly seen in infants, but the neonatal presentation is extraordinary. Although spontaneous hyphema is a common presenting sign in JXG, buphthalmos and corneal opacity in the neonatal period were reported only in one case, which had high IOP values at presentation.
CASE PRESENTATION
Sixteen-day-old male patient presented with buphthalmos, diffuse corneal clouding, and 11 mm Hg of IOP value in the right eye. IOP increased to 28 mm Hg three weeks later, and spontaneous hyphema developed, which did not respond to antiglaucomatous medications and topical corticosteroids. AGV was implanted, and the IOP decreased to 13 mm Hg postoperatively. In the follow-ups, numerous firm yellowish nodules were noticed on the patient's skin during the examination under general anesthesia. Histopathological examination of the skin nodules was compatible with the diagnosis of JXG. Lens subluxation and phacodonesis were developed during the follow-up and were managed with pars plana lensectomy. After a silent period of 3 months, epithelial ingrowth was determined around the side port entrance. Unfortunately, the ingrowth did not respond to cryotherapy and resulted in phthisis bulbi. Pathological evaluation of the enucleated phthisic eye revealed posterior segment involvement.
CONCLUSION
Ocular JXG can be present with buphthalmos, corneal opacity, and normal IOP values without any skin lesions in the neonatal period. Neonatal presentation of JXG may be associated with limited medical therapy response and aggressive disease course.
CLINICAL SIGNIFICANCE
This case report introduces the second ocular JXG case, which presented with buphthalmos and corneal cloudiness, and the third pathologically proven posterior segment involvement of JXG in the literature.
HOW TO CITE THIS ARTICLE
Dericioglu V, Sevik MO, Eraslan M, Juvenile Xanthogranuloma Presented with Buphthalmos and Corneal Clouding in Neonatal Period: A Case Report. J Curr Glaucoma Pract 2022;16(2):128-131.
PubMed: 36128087
DOI: 10.5005/jp-journals-10078-1369 -
American Journal of Ophthalmology Case... Mar 2023To report a rare case of an eyelid lesion in an adult, with histological features of juvenile xanthogranuloma (JXG).
PURPOSE
To report a rare case of an eyelid lesion in an adult, with histological features of juvenile xanthogranuloma (JXG).
OBSERVATIONS
Juvenile xanthogranuloma primarily affects the skin of infants and young children. It infrequently can involve the structures of the eye and orbit and rarely occurs in individuals beyond the second decade of life. We present a case of adult onset xanthogranuloma (AXG) involving the eyelid of a 29-year-old female. This lesion required management with multiple treatment modalities.
CONCLUSIONS
This is a rare example of an eyelid xanthogranuloma in an adult. As such, JXG-like lesions should be included as a differential diagnosis for lesions of the eye and orbit in adults. Surgical management may be required if there is no response to intralesional steroids.
PubMed: 36544751
DOI: 10.1016/j.ajoc.2022.101775