Extracutaneous Juvenile Xanthogranuloma Research Articles

Juvenile Xanthogranuloma of the Head and Neck: Imaging Findings in 11 Cases.

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. 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. 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. 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.

Paediatric Orbital Juvenile Xanthogranuloma: A Case Series and Review of the Literature.

Juvenile xanthogranuloma (JXG) is a subtype of histiocytosis characterised histologically by foamy non-Langerhan cells with Touton giant cells. It typically manifests as a single self-limiting cutaneous nodule in the paediatric population. Orbital JXG is extremely rare, and its clinical course and management are not well understood or defined. Herein we present 3 cases of orbital JXG and provide a detailed literature review. Review of 3 cases with orbital JXG and literature review of all published cases. Three presented cases demonstrate the heterogeneous clinical course of orbital JXG. Although centred around the use of steroids, there is neither robust evidence nor consensus on its management. The wider JXG literature is currently concentrated around the classification of JXG with respect to histiocytosis, especially the exclusion of extracutaneous JXG as separate diseases. This separation is based on clinical, histopathological, and molecular findings. It is unclear where orbital JXG best fits in this emerging classification of JXG. Our review of the cases and literature on orbital JXG show that it may manifest with variable clinical course and its molecular pathogenic mechanism may be different to that of the cutaneous JXG.

Imaging features of juvenile xanthogranuloma.

Juvenile xanthogranuloma is rare in children and there are limited data on its imaging features. To analyze the computed tomography (CT) and magnetic resonance imaging (MRI) features of juvenile xanthogranuloma in children. A retrospective review was performed of clinical and radiographic data of histologically confirmed juvenile xanthogranuloma between January 2009 and June 2020. Fourteen children (4 girls, 10 boys; age range: 1day to 13years, mean age: 73months) were included in thestudy: 4/14 had CT only, 5/14 had MRI only and 5/14 had CT and MRI. Sites of extracutaneous juvenile xanthogranuloma involvement included subcutaneous soft tissue (8/14), liver (2/14), lungs (2/14), kidney (2/14), nose (2/14), pancreas (1/14), central nervous system (1/14) and greater omentum (1/14), mainly manifested as single or multiple nodules or masses in different organs. On CT, the lesions mainly manifested as an iso-hypo density mass with mild or marked enhancement. On MRI, the lesions mainly manifested as slightly hyperintense on T1 and slightly hypointense on T2, with decreased diffusivity and homogeneous enhancement. Juvenile xanthogranuloma was not included in the imaging differential diagnosis in any case. Juvenile xanthogranuloma mainly manifests as single or multiple nodules or masses in different organs. Slight hyperintensity on T1 and slight hypointensity on T2 with decreased diffusivity and homogeneous enhancement are relatively characteristic imaging findings of juvenile xanthogranuloma. Combined with its typical skin lesions and imaging features, radiologists should include juvenile xanthogranuloma in the differential diagnosis when confronted with similar cases.

Juvenile xanthogranulomas: Examining single, multiple, and extracutaneous presentations

Juvenile xanthogranuloma (JXG) is a non-Langerhans cell histiocytosis characterized by yellowish papules in the skin. JXGs most often occur in infancy or early childhood and are typically solitary and asymptomatic, often regressing after several years. While JXGs predominantly occur on the skin, extracutaneous JXGs also exist. In this paper, we review the literature on single, multiple, and visceral JXGs and provide recommendations on monitoring and work-up. A literature review was conducted with the PubMed database using selective search terms for single, multiple, ocular, and visceral lesions as well as NF1/JMML. JXG is typically a self-limited disorder if lesions are cutaneous and singular. While rare, JXGs may manifest as multiple and extracutaneous lesions. Further screening and referral to specialists may be warranted in these cases based on age and extent of involvement. Our review demonstrates common presentations of single, multiple, and extracutaneous lesions in addition to those that occur with NF1 and JMML. We suggest patients be evaluated on a case-by-case basis by a dermatologist and referred to specialists as appropriate.

Long‐term outcomes of children with extracutaneous juvenile xanthogranulomas in Japan

Juvenile xanthogranuloma (JXG) is the most common non-Langerhans cell histiocytosis in children. The mortality and morbidity of JXG with extracutaneous lesions remain unclear. Data of patients aged<18 years who were diagnosed with JXG between 2001 and 2010 were retrospectively collected through a nationwide survey. Twenty patients (11 male and nine female) had extracutaneous lesions. The median observation time was 10 years (range, 0-17). Six patients presented with symptoms at birth. The median age at diagnosis was 8.5 months (range, 0 month-13 years). Fifteen patients underwent treatment for JXG, including chemotherapy (n=11), and five did not receive treatment. All patients except one survived; 17 were disease-free and two survived with disease. One newborn-onset patient with liver, spleen, and bone marrow involvement died of the disease. Permanent sequelae included central diabetes insipidus, growth hormone deficiency, and panhypopituitarism detected at diagnosis in three, one, and two patients, respectively. Four patients had visual impairment (optic nerve compression and intraocular invasion in two each), three had epilepsy, one had mental retardation, and one had a skin scar. Eight patients who had intracranial lesions were older at diagnosis, and had a higher frequency of disease-related comorbidities and permanent sequelae than those without intracranial involvement. Patients with extracutaneous JXG had good outcomes, although those with intracranial lesions had serious permanent sequelae. Effective and safe treatment regimens for patients with intracranial JXG need to be developed.

Juvenile Xanthogranuloma of Middle Ear and External Auditory Canal: A Rare Case Report

Juvenile xanthogranuloma (JXG) is a benign self-limiting non langerhans cell histiocytic lesion of unknown etiology and pathogenesis. It commonly affects infants and adolescents only 15% cases reported from the adult population. It characteristically appears as yellow to brown solitary papule, affecting the skin of head, neck and trunk region. Extra cutaneous JXG are reported from various sites including central nervous system, gastrointestinal system, kidney, larynx, tongue with single case report from tympanic membrane and external auditory canal. We describe a very rare case of adult JXG occurring as multiple papules from the external auditory canal and granulations from middle ear, which presented as persistent otorrhea. We discuss the clinical presentation, imaging, pathological findings and review of literature for this case. To the best of our knowledge this is first reported case of JXG from the middle ear cavity.

MRI Findings of Juvenile Xanthogranuloma of the Spinal Cord: A Case Report

Juvenile xanthogranuloma (JXG) is a proliferative histiocytic disorder experienced during childhood and adolescents, and most commonly presents in the first two decades of life (1). JXG is not a true neoplasm, but rather a reactive proliferation of histiocytes, and belongs to the category of non-Langerhans dendritic cell disorders. However, the etiology and pathogenesis of JXG are still unknown. Most cases present as a solitary cutaneous lesion followed by a soft tissue mass in the head and neck region. Extracutaneous JXG, especially when involving only the spinal column, is extremely rare in adults. Through a review of the literature, we identified only three previous cases, which were in a 38-year-old male, 29-year-old male, and 41-year-old female (2-4). We describe a 67-year-old female who presented with an intradural-extramedullary (IDEM) tumor of the spinal cord. To our knowledge, this case report represents the oldest patient with a new presentation of spinal JXG. We report magnetic resonance imaging (MRI) findings of JXG of the spinal cord, which were then pathologically confirmed.

Thalidomide Therapy for Aggressive Histiocytic Lesions in the Pediatric Population

Aggressive histiocytic lesions are uncommon in the pediatric population. These neoplasms occur in isolation or after therapy for other types of hematopoietic malignancy such as T-cell acute lymphoblastic leukemia. The etiology of these lesions is poorly understood, and no definitive standard of care has been established for patients with these diagnoses. Here, we report the success of thalidomide treatment for 2 subtypes of histiocytic proliferation--metastatic histiocytic sarcoma and extracutaneous juvenile xanthogranuloma--in pediatric patients. Our findings highlight the importance of considering thalidomide therapy in this unique and difficult to treat patient population.

Solitary, extracutaneous, skull‐based juvenile xanthogranuloma

We report a case of an 18-month-old female who presented an occipital bone lesion with progressive growth. Imaging studies showed a left extradural, skull-based tumor partially occupying the posterior fossa. Histopathological and immunohistochemical studies confirmed a juvenile xanthogranuloma (JXG). Partial surgical resection, chemotherapy, and conformational radiotherapy were used. Exclusive extracutaneous JXG with an intracranial, vertebral, or skull-based localization is extremely rare.

Solitary juvenile xanthogranuloma of the temporal muscle and bone penetrating the dura mater in a 2-month-old boy

Juvenile xanthogranuloma (JXG) is a rare histiocytic disorder primarily observed during the first 2 years of life. Most patients present with a solitary cutaneous lesion; however, others present with extracutaneous manifestations or even with systemic involvement. The authors describe a 2-month-old boy in whom was diagnosed a unifocal extracutaneous JXG involving the temporal bone. Unlike 3 other cases of solitary JXGs of the temporal bone in the literature, the present case involved destruction of the dura mater and leptomeningeal enhancement surrounding the entire temporal lobe. The lesion did not regress after an initial biopsy procedure and had to be removed more radically because of progressive mass effect on the brain. The child recently underwent a reconstructive skull procedure and is doing well almost 2 years postoperatively without evidence of disease. This case demonstrates that even in instances of extensive disease a favorable outcome is possible without chemotherapy.

Juvenile xanthogranuloma: a case report of a preterm baby

This case report describes a preterm baby with juvenile extracutaneous xanthogranuloma that rapidly expanded. The tumor was excised because of rapid enlargement and extension into the thoracic inlet. To our knowledge, this is the first case of a preterm baby with extracutaneous juvenile xanthogranuloma. The case illustrates the need for careful surveillance of this lesion because it cannot always be managed conservatively.

Juvenile Xanthogranuloma of Peripheral Nerve

As a rule, juvenile xanthogranuloma (JXG) is a cutaneous lesion most often occurring in infancy. An inflammatory process of unknown etiology, it is self-limited and benign in nature. The spectrum of JXG has expanded to include adult examples, multifocal lesions, and ones arising at extracutaneous locations. Although a variety of extracutaneous sites may be affected, few reported lesions have involved cranial or peripheral nerves. Solitary examples have been reported in trigeminal nerve and spinal nerve root; affected individuals were children or adolescents. An optic nerve lesion has also been described. We describe two additional cases of JXG of nerve. One patient developed multiple dorsal nerve root lesions, as well as skin involvement. The other case featured isolated involvement of the left radial nerve. Both patients were adults with no known underlying systemic disorder. These cases further expand the spectrum of extracutaneous JXG, and underscore its consideration in the differential of nerve "tumors."