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https://www.readbyqxmd.com/read/28522113/neonatal-glaucoma-associated-with-juvenile-xanthogranuloma-case-report
#1
A Ramos Suárez, I Ayet Roger, A Serra Castanera
CASE REPORT: The case concerns a 22 day-old male child with juvenile xanthogranuloma (JXG), which manifested as a unilateral glaucoma and with fibrinous haemorrhagic exudate in the anterior chamber affecting the angle of the right eye. Despite a high level of suspicion, the definitive diagnosis was not possible until the infant reached the age of 10 months, after the appearance of the skin lesions typical of this condition and histopathological study of them. CONCLUSION: JXG is a rare disease, characterised by yellowish skin lesions on the trunk, neck, or head...
May 15, 2017: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/28512266/activating-mapk1-erk2-mutation-in-an-aggressive-case-of-disseminated-juvenile-xanthogranuloma
#2
Rikhia Chakraborty, Oliver A Hampton, Harshal Abhyankar, Daniel J Zinn, Amanda Grimes, Brooks Skull, Olive Eckstein, Nadia Mahmood, David A Wheeler, Dolores Lopez-Terrada, Tricia L Peters, John M. Hicks, Tarek Elghetany, Robert Krance, Poulikos I Poulikakos, Miriam Merad, Kenneth L McClain, Carl E Allen, Donald W. Parsons
Juvenile xanthogranuloma (JXG) is a rare histiocytic disorder that is usually benign and self-limiting. We present a case of atypical, aggressive JXG harboring a novel mitogen-activated protein kinase (MAPK) pathway mutation in the MAPK1 gene, which encodes mitogen-activated protein kinase 1 or extracellular signal-regulated 2 (ERK2). Our analysis revealed that the mutation results in constitutive ERK activation that is resistant to BRAF or MEK inhibitors but susceptible to an ERK inhibitor. These data highlight the importance of identifying specific MAPK pathway alterations as part of the diagnostic workup for patients with histiocytic disorders rather than initiating empiric treatment with MEK inhibitors...
April 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28504206/braf-v600e-mutation-in-pediatric-intracranial-and-cranial-juvenile-xanthogranuloma
#3
Piti Techavichit, Darintr Sosothikul, Thiamjit Chaichana, Chinachote Teerapakpinyo, Paul Scott Thorner, Shanop Shuangshoti
Juvenile xanthogranuloma (JXG) is a cutaneous form of non-Langerhans cell histiocytosis (LCH), primarily affecting children. The lesion is presumed to originate from either macrophages or dermal dendritic cells. JXG can rarely present as an isolated intracranial lesion and, in contrast to the dismal outcome of patients with systemic disease, cranial JXG has been shown to carry a more favorable prognosis. Here, we report for the first time 3 pediatric cases of JXG with a BRAF V600E mutation, 2 with intracranial lesions and one with cranial lesions...
May 10, 2017: Human Pathology
https://www.readbyqxmd.com/read/28403515/an-aggressive-multifocal-primary-cns-histiocytosis-with-ptpn11-shp2-mutation
#4
Qi Zhang, Areej Shibani, Bekim Sadikovic, Christopher J Howlett, Lee-Cyn Ang
Primary histiocytic tumors of the CNS are rare. The current WHO classification (2016) included 5 entities: Langerhans cell histiocytosis (LCH), Erdheim-Chester disease (ECD), Rosai-Dorfman disease (RDD), juvenile xanthogranuloma (JXG), and histiocytic sarcoma (HS) (1). The diagnosis usually is made based on the tumor differentiation as to the counterpart in normal histiocyte development. This article is protected by copyright. All rights reserved.
April 12, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28329596/coalescing-nodules-on-the-trunk-of-an-infant-juvenile-xanthogranuloma-en-plaque
#5
Jennifer T Hau, Kathy Langevin
Juvenile xanthogranuloma (JXG) is a benign, non-Langerhans cell histiocytosis, which commonly manifests as a solitary papule or nodule in infants and young children. However, other less common clinical presentations have been reported including clustered, agminated or plaque-like. It is important to recognize these variants, as diagnosis is often clinical. We highlight a case of juvenile xanthogranuloma presenting as nodules on the trunk of an infant that gradually coalesced to form a larger plaque.
October 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28318056/cutaneous-and-systemic-findings-in-mosaic-neurofibromatosis-type-1
#6
Igor Vázquez-Osorio, Anna Duat-Rodríguez, Francisco Javier García-Martínez, Antonio Torrelo, Lucero Noguera-Morel, Angela Hernández-Martín
BACKGROUND/OBJECTIVES: Mosaic neurofibromatosis type 1 (MNF1) is a variant of neurofibromatosis type 1 (NF1) in which clinical manifestations are limited to one or several body segments. The objective was to characterize the cutaneous features and associated systemic findings in a cohort of children with MNF1. METHODS: We performed a retrospective study of 40 children diagnosed with MNF1 at the Department of Dermatology, Hospital Infantil Niño Jesús, Madrid, Spain, from January 1, 1986, to October 31, 2015...
March 20, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28300446/a-rare-case-of-solitary-giant-congenital-juvenile-xanthogranuloma
#7
Catherine Vignault, Émilie Bourgeault, Éric Gagné, Janie Bujold
Juvenile xanthogranuloma (JXG) is the most frequent form of non-Langerhans cell histiocytosis. We present a case of giant congenital JXG in a 7-week-old boy, who had a firm and incompressible lesion, measuring 3 × 4 cm in diameter, on his right flank. The clinical appearance of the lesion and the ultrasound results suggested a vascular tumor, such as a hemangioma. Histology confirmed a JXG, although there was an absence of Touton cells, which are usually pathognomonic of JXG. In light of these findings, it would be important to include JXG in the differential diagnosis of congenital tumours, particularly vascular lesions...
February 1, 2017: Journal of Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/28111791/association-between-juvenile-myelomonocytic-leukemia-juvenile-xanthogranulomas-and-neurofibromatosis-type-1-case-report-and-review-of-the-literature
#8
REVIEW
Samuel Paulus, Sandra Koronowska, Regina Fölster-Holst
The occurrence of juvenile myelomonocytic leukemia (JMML), juvenile xanthogranuloma (JXG), and neurofibromatosis type 1 (NF1) together is relatively rare. Approximately only 20 cases have been reported in the literature. It is debated whether children with NF1 and JXG are at higher risk of developing JMML than children with NF1 alone. We present the case of a boy primarily diagnosed with NF1 with coexisting JXG who developed JMML at the age of 22 months. The clinical course from initial presentation to final diagnosis is detailed and the genetic features and hematologic characteristics are discussed...
March 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28050386/juvenile-xanthogranuloma-in-vulva-of-a-10-year-old-child
#9
Barkha Gupta, Surekha Yadav, Nita Khurana, Manish Sharma
A 10-year-old child presented with asymptomatic, well-circumscribed nodule in the vulva. Excision biopsy showed features of classic Juvenile Xanthogranuloma (JXG) which is a rare benign disorder of non-langerhans' cell group of histiocytic proliferative diseases. The presentation of this lesion as vulval nodule is extremely rare and the extensive literature search revealed only handful of cases of vulval xanthogranuloma that too in an adult age group. The lesion is however prognostically favourable and should be kept in mind as one of the differential diagnosis of the vulval nodule...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27435377/elevated-taurine-and-glutamate-in-cerebral-juvenile-xanthogranuloma-on-mr-spectroscopy
#10
Ken Matsubara, Harushi Mori, Nozomi Hirai, Kumi Yasukawa, Takafumi Honda, Jun-Ichi Takanashi
MRI in a 2-year-old female presenting afebrile seizures and left blepharoptosis revealed multiple well-marginated round-shaped lesions, isointensity to gray matter on T1- and T2-weighted images with homogenously reduced diffusion and diffuse contrast enhancement. MRS revealed elevation of taurine, choline and glutamate, and reduction of N-acetylaspartate. A brain biopsy confirmed a diagnosis of juvenile xanthogranuloma (JXG). JXG should be considered when MR spectroscopy shows elevated taurine and glutamate, which has only previously been reported in medulloblastomas...
November 2016: Brain & Development
https://www.readbyqxmd.com/read/27367608/juvenile-xanthogranuloma-presenting-as-an-isolated-renal-involvement
#11
Suvradeep Mitra, Saumya Gupta, Prema Menon, K L N Rao, Amanjit Bal
Juvenile xanthogranuloma (JXG) is a histiocytic disorder of childhood that mostly affects the skin although extracutaneous and visceral manifestations are well documented in English literature. The renal involvement is less commonly documented as a manifestation of xanthogranuloma and the reported cases occur in conjunction with cutaneous xanthogranuloma, especially in association with multiple skin lesions. We present a case of isolated renal JXG presenting as a renal mass with perinephric soft tissue and muscle involvement but without any cutaneous manifestation...
2016: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/27312940/successful-treatment-of-systemic-juvenile-xanthogranulomatosis-with-cytarabine-and-2-chlorodeoxyadenosine-case-report-and-review-of-the-literature
#12
L Maintz, J Wenzel, M Irnich, H Reinhard, T Bieber
The non-Langerhans cell histiocytosis (LCH) juvenile xanthogranulomatosis (JXG) is usually a benign disease limited to the skin. Only a few cases of systemic disease with at least two affected organs and lethal outcomes have been reported to date. Treatment is controversial and no standard protocol is available. We report the rare case of a 22-month-old boy presenting multiple erythematous brownish papules of the head, trunk and legs, which had developed starting from his 6th month of life. Additional symptoms were delayed psychomotor development, hydrocephalus and hepatosplenomegaly...
February 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/27173098/the-clinical-diagnosis-and-management-options-for-intracranial-juvenile-xanthogranuloma-in-children-based-on-four-cases-and-another-39-patients-in-the-literature
#13
Baocheng Wang, Huiming Jin, Yang Zhao, Jie Ma
BACKGROUND: Juvenile xanthogranulomas (JXGs) are uncommon non-Langerhans cell histiocytic proliferations which occur most often in children. Rare cases of intracranial JXGs in children have been reported. The precise treatment strategy for intracranial JXG with high fatality is still unclear. METHOD: We present four cases of intracranial JXG with 2-6 years of follow-up. Review of the previous literature since 1980 revealed another 39 pediatric intracranial JXGs...
July 2016: Acta Neurochirurgica
https://www.readbyqxmd.com/read/26949359/corneal-xanthogranuloma-in-association-with-multiple-endocrine-neoplasia-1-a-clinicopathologic-case-report-and-review-of-the-literature
#14
Hind M Alkatan, Ali A Al-Rajhi
Juvenile xanthogranuloma (JXG) is a benign inflammatory condition of uncertain pathogenesis. It is characterized by skin and ocular involvement - typically in the iris - in children. It has been reported in older age groups and has been also observed to involve other ocular structures such as the cornea and conjunctiva. In this case report, we are presenting an extensive right eye corneal lesion in a 43-year old male which showed the typical histopathological feature of JXG and in association with multiple endocrine neoplasia (type 1)...
January 2016: Saudi Journal of Ophthalmology: Official Journal of the Saudi Ophthalmological Society
https://www.readbyqxmd.com/read/26794218/the-epidemiology-clinical-characteristics-histopathology-and-management-of-juvenile-and-adult-onset-corneoscleral-limbus-xanthogranuloma
#15
G Kontos, S Borooah, A Khan, B W Fleck, S E Coupland
PURPOSE: Adult-onset xanthogranuloma (AOX) of the corneoscleral limbus is a rare inflammatory condition of unknown aetiology. Similar to limbal juvenile xanthogranuloma (JXG), it presents as a growing mass at the corneoscleral junction. Limbal AOX and JXG can lead to sight-threatening complications if not managed in a timely manner. This systematic review summarises the main clinical and histopathological features of limbal AOX/JXG and discusses the management of this uncommon disease...
March 2016: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/26637774/uncommon-histiocytic-disorders-rosai-dorfman-juvenile-xanthogranuloma-and-erdheim-chester-disease
#16
Julien Haroche, Oussama Abla
Rosai-Dorfman disease (RDD), juvenile xanthogranuloma (JXG), and Erdheim-Chester disease (ECD) are non-Langerhans cell (non-LCH) disorders arising from either a dendritic or a macrophage cell. RDD is a benign disorder that presents with massive lymphadenopathy, but can have extranodal involvement. In most cases, RDD is self-limited and observation is the standard approach. Treatment is restricted to patients with life-threatening, multiple-relapsing, or autoimmune-associated disease. JXG is a pediatric histiocytosis characterized by xanthomatous skin lesions that usually resolve spontaneously...
2015: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/26637772/biological-and-clinical-significance-of-somatic-mutations-in-langerhans-cell-histiocytosis-and-related-histiocytic-neoplastic-disorders
#17
REVIEW
Carl E Allen, D Williams Parsons
Langerhans cell histiocytosis (LCH), juvenile xanthogranuloma (JXG), and Erdheim-Chester disease (ECD) represent histiocytic disorders with a wide range of clinical manifestations. Until recently, mechanisms of pathogenesis have been speculative and debate has focused on classification of these conditions as reactive versus neoplastic. Genomic studies have been challenged by scarce tissue specimens, as well as heterogeneous nature of the lesions with variable infiltration of pathologic histiocytes. Whole-exome sequencing recently revealed a very low frequency of somatic mutations in LCH, JXG, and ECD compared to other neoplastic disorders...
2015: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/26288431/solitary-ulcerated-congenital-giant-juvenile-xanthogranuloma
#18
Su Yuen Ng
A 3-month-old female patient with a giant ulcerated nodule over the back since birth was diagnosed as congenital giant juvenile xanthogranuloma (JXG) based on clinical and histopathological examination. Congenital giant JXG with ulceration at birth is a rare presentation of JXG and commonly misdiagnosed. This case emphasizes the importance of being aware of the myriad presentations of JXG in order to make a correct diagnosis and avoid unnecessary investigations or treatment.
July 2015: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/26189188/juvenile-xanthogranuloma-involving-the-eye-and-ocular-adnexa-tumor-control-visual-outcomes-and-globe-salvage-in-30-patients
#19
Wasim A Samara, Chloe T L Khoo, Emil Anthony T Say, Jarin Saktanasate, Ralph C Eagle, Jerry A Shields, Carol L Shields
PURPOSE: To report clinical features and treatment outcomes of ocular juvenile xanthogranuloma (JXG). DESIGN: Retrospective case series. PARTICIPANTS: There were 32 tumors in 31 eyes of 30 patients with ocular JXG. METHODS: Review of medical records. MAIN OUTCOME MEASURES: Tumor control, intraocular pressure (IOP), and visual acuity. RESULTS: The mean patient age at presentation was 51 months (median, 15 months; range, 1-443 months)...
October 2015: Ophthalmology
https://www.readbyqxmd.com/read/26120163/uncommon-presentation-of-a-common-histiocytic-tumor-a-rare-entity
#20
Chinmay Kar, Kapildev Das, Jayanta K Barua
Juvenile xanthogranuloma (JXG) is the most common form of non-Langerhans cell histiocytic lesion, characterized by benign, usually asymptomatic, self-healing yellowish brown papulonodular lesions of skin and other organs in the absence of metabolic disorder. The cells of origin of JXG are dermal dendrocytic cells. Histopathologically there is dermal infiltration of foamy or non-foamy histiocytes with or without giant cell. Immunohistochemistry shows CD68 positivity with CD1a and S-100 negativity of lesional cells although S-100-positive JXG have been reported...
May 2015: Indian Journal of Dermatology
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