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Radiology Case Reports Feb 2023Juvenile xanthogranuloma (JXG) is a type of non-Langerhans cell histiocytosis that rarely involves other than the skin. Here, we present detailed ultrasound (US)...
Juvenile xanthogranuloma (JXG) is a type of non-Langerhans cell histiocytosis that rarely involves other than the skin. Here, we present detailed ultrasound (US) findings, including a contrast study, of a rare JXD renal lesion. A 42-year-old woman with JXG had chronic kidney disease. Ultrasound showed multiple cystic masses with fine internal septa in both kidneys. Contrast-enhanced US revealed early staining and late washout consistent with the internal septa inside the masses and led us to suspect cystic renal cell carcinomas in both kidneys. Left nephrectomy was performed for diagnostic purposes. Microscopic examination revealed a foamy component with Touton-type giant cells by histiocytosis; CD68 and S100 were positive, and CD1a was negative, leading the diagnosis of JXD. The US findings of extracutaneous lesions on JXA are variable and can be cystic, and when arising in the kidney may resemble cystic renal cell carcinoma.
PubMed: 36439921
DOI: 10.1016/j.radcr.2022.10.101 -
Actas Dermo-sifiliograficas Mar 2023The neurofibromatosis 1 (NF1) diagnosis is challenging in young children without a family history of NF1. The aims of this study were to estimate diagnostic delays in... (Observational Study)
Observational Study
BACKGROUND AND OBJECTIVES
The neurofibromatosis 1 (NF1) diagnosis is challenging in young children without a family history of NF1. The aims of this study were to estimate diagnostic delays in children without a family history of NF1 and to examine the effects of using café au lait macules and skin fold freckling as a single diagnostic criterion.
PATIENTS AND METHODS
Retrospective, descriptive, observational study of all patients diagnosed with NF1 before the age of 18 years who were seen at our hospital. The medical records of those included were reviewed to identify the date on which the diagnostic criteria of NF1 were objectified. The patients were categorized into 2 groups: those with a known parental history of NF1 and those without. Café au lait macules and skin fold freckling were assessed as a single diagnostic criterion, and genetic evidence was considered to confirm highly suspicious cases.
RESULTS
We studied 108 patients younger than the age of 18 years with a diagnosis of NF1. Mean (SD) age at diagnosis was 3.94 (±3.8) years for the overall group, 1 year for patients with a parental history of NF1, and 4 years and 8 months for those without. Diagnosis was therefore delayed by 3 years and 8 months in patients without a family history.
CONCLUSION
Skin lesions were the first clinical manifestation of NF1 in most patients. We believe that the National Institutes of Health's diagnostic criteria for NF1 should be updated to aid diagnosis in young children.
Topics: Humans; Child; Child, Preschool; Adolescent; Neurofibromatosis 1; Retrospective Studies; Cafe-au-Lait Spots; Skin Diseases; Melanosis
PubMed: 36370836
DOI: 10.1016/j.ad.2022.10.036 -
JAAD Case Reports Nov 2022
PubMed: 36275874
DOI: 10.1016/j.jdcr.2022.09.007 -
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 -
Cureus Aug 2022Langerhans cell histiocytosis (LCH) and adult-onset xanthogranuloma (AXG) are rare disorders characterized by the accumulation of macrophage, dendritic cells, or...
Langerhans cell histiocytosis (LCH) and adult-onset xanthogranuloma (AXG) are rare disorders characterized by the accumulation of macrophage, dendritic cells, or monocyte-derived cells in various tissues of the body. Many researchers now consider LCH a form of malignancy, but this classification remains controversial. As per our knowledge, there are only 36 cases of AXG reported so far in the English literature. Here, we report a case of AXG and single-system LCH found in the oral cavity and cervical lymph nodes, respectively. In this article, we intend to define a clear understanding of some classic clinical, radiological, and histopathological findings of LCH and AXG, to differentiate them from oral malignancies. The primary goal of this article is to increase awareness regarding conditions that closely resemble malignancies and to save patients from the burden of extensive treatment under the presumption of malignant disorders. In the medical field, reporting of rare cases is highly encouraged; however, proper treatment for the patient depends on the accurate diagnosis that, in this case, was made postoperatively, which only added more physical and mental distress for the patient and their family.
PubMed: 36196323
DOI: 10.7759/cureus.28640 -
Actas Dermo-sifiliograficas 2022The diagnosis of Neurofibromatosis type 1 (NF1) is usually delayed in children without a family history. We aimed to define the prevalence and characteristics of...
BACKGROUND
The diagnosis of Neurofibromatosis type 1 (NF1) is usually delayed in children without a family history. We aimed to define the prevalence and characteristics of prevalent skin manifestations in NF1 compared to the general population, which continue to be excluded from the diagnostic criteria for NF1.
PATIENTS AND METHODS
Case-control study, matched by age groups, in which 108 patients with a diagnosis of NF1 and 137 healthy controls were included.
RESULTS
The prevalence of nevus anemicus (NA) (P<.001) and juvenile xanthogranulomas (JXG) (P<.001) was significantly higher in the population affected by NF1 than in the control population. A specificity of 99.27% (confidence interval): 95.4-99.96%] and a positive predictive value (PPV) of 98.80% [92.54-99.94%] were estimated for NA and a specificity of 99.27% [95.4-99.96%] and a PPV of 92.86% [64.17-99.63%] for JXG in the diagnosis of NF1 in children who present 6 or more Café-au-lait macules. Statistically significant differences were also evidenced in the distribution by phototypes (P=.025) and in relation to generalized itching with no other cause (P<.001).
CONCLUSIONS
NA and JXG are relevant clinical findings for the diagnosis of NF1, especially during the first years of life. We consider that its inclusion among the diagnostic criteria of the disease should be evaluated.
Topics: Child; Humans; Neurofibromatosis 1; Case-Control Studies; Cafe-au-Lait Spots; Pigmentation Disorders; Xanthogranuloma, Juvenile; Prevalence; Inflammation
PubMed: 36162491
DOI: 10.1016/j.ad.2022.09.011 -
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 -
World Journal of Clinical Cases Jul 2022Germ cell tumors (GCTs) account for 2% of human malignancies but are the most common malignant tumors among males aged 15-35. Since 1983, an association between...
BACKGROUND
Germ cell tumors (GCTs) account for 2% of human malignancies but are the most common malignant tumors among males aged 15-35. Since 1983, an association between mediastinal GCT (MGCT) and hematologic malignancies has been recognized.
CASE SUMMARY
We report a case in which malignant histiocytosis was associated with mediastinal GCTs. The clinical data of a male patient with MGCT admitted to Beijing Children's Hospital were collected retrospectively. The patient was first diagnosed according to imaging and pathological features as having MGCT, and was treated with surgery and chemotherapy. One year after stopping chemotherapy, imaging showed metastases in the right supraclavicular, mediastinum, hilar region and retroperitoneal lymph node, right pleura, right lung, and right para-cardiac margin. Pathological diagnosis of the liver nodular and hilar lymph nodes included systemic juvenile xanthogranuloma and Rosai-Dorfman lesions with malignant transformation ( morphological characteristics and immunophenotype of histiocytic sarcoma). Following diagnosis, the patient accepted chemotherapy with vindesine, cytarabine and dexamethasone. Positron emission tomography-computed tomography showed partial remission. The patient was followed-up for 10 mo after the diagnosis of malignant histiocytosis, and no sign of progression or relapse was observed.
CONCLUSION
Physicians should recognize the possibility of hematologic malignancies being associated with MGCT. Suitable sites should be selected for pathological examination.
PubMed: 36051154
DOI: 10.12998/wjcc.v10.i20.7116 -
Disseminated juvenile xanthogranulomas with ocular involvement: A case report and literature review.SAGE Open Medical Case Reports 2022Cutaneous juvenile xanthogranuloma is an uncommon disorder usually arising during infancy. Systemic involvement of juvenile xanthogranuloma remains rare, and there are...
Cutaneous juvenile xanthogranuloma is an uncommon disorder usually arising during infancy. Systemic involvement of juvenile xanthogranuloma remains rare, and there are no published guidelines to date on screening extracutaneous manifestations in these patients. Ocular involvement is the most common extracutaneous manifestation of juvenile xanthogranuloma. We present the case of an infant with disseminated juvenile xanthogranulomas and associated ocular involvement and present a review of literature, focusing on identifying risk factors for ocular and systemic involvement in disseminated cases.
PubMed: 35991957
DOI: 10.1177/2050313X221117693 -
Clinical, Cosmetic and Investigational... 2022Non-Langerhans cell histiocytosis (non-LCH) is a group of diseases characterized by the proliferation of histiocytes in tissues that is excluded from the diagnostic...
Non-Langerhans cell histiocytosis (non-LCH) is a group of diseases characterized by the proliferation of histiocytes in tissues that is excluded from the diagnostic criteria for LCH. Juvenile xanthogranuloma (JXG) and benign cephalic histiocytosis (BCH) are the most common types of cutaneous non-LCH. These two diseases share similarities in both clinical and histological features, therefore, they can be difficult to differentiate. Thorough physical, dermoscopic, and histopathological examinations are required to distinguish between JXG and BCH. We hereby present two rare cases of non-LCH in pediatric patients, presented with JXG and BCH. The dermoscopic examination of both cases showed a setting-sun appearance, while the histopathological examination revealed Touton giant cells in the JXG case, and massive lymphocyte infiltration in the BCH case. Both patients were treated with 1% topical rapamycin in a split-side comparison for the first 12 weeks, followed by applications on both sides for a total duration of 24 weeks. As a result, there was a significant reduction in the size of the lesion, leading to patient's satisfaction. Rapamycin is an immunosuppressive agent with antineoplastic activity. Rapamycin can be used as an alternative non-invasive topical treatment option for JXG and BCH. However, long-term observations are required to assess its effectiveness and side effects.
PubMed: 35967913
DOI: 10.2147/CCID.S375995