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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, M John Hicks, Tarek Elghetany, Robert Krance, Poulikos I Poulikakos, Miriam Merad, Kenneth L McClain, Carl E Allen, Donald Williams 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/28500693/the-clinical-spectrum-of-xanthomatous-lesions-of-the-eyelids
#4
REVIEW
Can Baykal, Algun Polat Ekinci, Kurtulus D Yazganoglu, Nesimi Buyukbabani
Yellowish papules, nodules, or plaques, namely "xanthomatous" lesions, may be seen on the eyelids in the course of various disorders. The prototype is "xanthelasma palpebrarum" (XP) that is localized only to the eyelids and may be associated with hyperlipidemia. On the other hand, different types of normolipemic disorders may also cause xanthomatous eyelid lesions. Among these, Langerhans cell histiocytosis, diffuse normolipemic xanthoma, and non-Langerhans cell histiocytoses (papular xanthoma, juvenile xanthogranuloma, xanthoma disseminatum, adult-onset xanthogranuloma, adult-onset asthma and periocular xanthogranuloma, necrobiotic xanthogranuloma, Erdheim-Chester disease, Rosai-Dorfman disease, and reticulohistiocytosis) can be listed...
May 13, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28403515/an-aggressive-multifocal-primary-cns-histiocytosis-with-ptpn11-shp2-mutation
#5
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/28398921/hemosiderotic-juvenile-xanthogranuloma
#6
Angel Fernandez-Flores, Ina Nicklaus, Fiona Browne, Isabel Colmenero
Juvenile xanthogranuloma is a non-Langerhans cell lesion mostly limited to the skin but occasionally presenting in extracutaneous locations or associated with systemic conditions. Lesions need to be distinguished mainly from dermatofibroma, xanthoma, Langerhans cell histiocytosis, or reticulohistiocytoma. Herein, we present a hemosiderotic variant of juvenile xanthogranuloma in a 12-year-old girl, which we have not found described in literature. The lesion presented at the back of the scalp as a slowly growing yellowish polypoid lesion showing occasional bleeding...
March 16, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28394239/management-of-uveitis-and-scleritis-in-necrobiotic-xanthogranuloma
#7
John A Gonzales, Anna Haemel, Andrew J Gross, Nisha R Acharya
Necrobiotic xanthogranuloma (NXG) is a chronic, progressive non-Langerhans histiocytic granulomatous disease. While case reports describing periorbital involvement of NXG are frequent, only a few case reports describing ocular involvement, such as scleritis and uveitis, exist. Herein, we present a case presenting initially as bilateral anterior and posterior scleritis, as well as a chronic bilateral granulomatous panuveitis, and discuss the immunosuppressant options that should be considered for this disease with protean manifestations...
May 2017: Journal of Ocular Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28372783/ultrasound-appearance-of-juvenile-xanthogranuloma
#8
C Martínez-Morán, B Echeverría-García, J C Tardío, J Borbujo
No abstract text is available yet for this article.
March 31, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28329596/coalescing-nodules-on-the-trunk-of-an-infant-juvenile-xanthogranuloma-en-plaque
#9
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/28318197/-generalized-eruptive-histiocytosis-juvenile-xanthogranuloma-clinical-spectrum-in-a-pediatric-patient
#10
Ruth Alperovich, Pedro T Grassino, Raúl Asial, Luis Pasteris, María Del Carmen Boente
Both, generalized eruptive histiocytosis and juvenile xanthogranuloma are dendritic histiocytic disorders (also known as non-Langerhans cells histiocytosis) that share clinicopathological and immunohistiochemical characteristics. We present a 3-year-old female patient with skin lesions that were clinically compatible with generalized eruptive histiocytosis, confirmed by histopathological and immunohistochemical studies. During her development the disorder compromised the central nervous system, and surgical intervention of one symptomatic lesion was needed...
April 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28318056/cutaneous-and-systemic-findings-in-mosaic-neurofibromatosis-type-1
#11
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
#12
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/28297144/a-case-with-juvenile-xanthogranuloma-and-progressive-nodular-histiocytosis-overlap
#13
Lucia Guidolin, Lucero Noguera-Morel, Angela Hernández-Martín, Héctor Fernández-Llaca, José Luis Rodríguez-Peralto, Antonio Torrelo
A patient with overlap between juvenile xanthogranuloma and progressive nodular histiocytosis is presented. He had progressive, superficial, small, yellow-reddish papules and large dermal nodules, consistent with progressive nodular histiocytosis. Histopathology showed distinctive features of juvenile xanthogranuloma. Our patient reinforces the view that progressive nodular histiocytosis is not a distinct clinical entity, but an evolutionary form of juvenile xanthogranuloma.
March 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28295661/non-cirrhotic-portal-hypertension-in-necrobiotic-xanthogranuloma-associated-with-monoclonal-gammopathy
#14
LETTER
M Vignon, L Placais, M Malphettes, J D Bouaziz, B Asli, P Bedossa, J Rivet, R Szalat, A M Zagdanski, M Rybojad, J P Fermand, M Baron, P E Rautou, B Arnulf
No abstract text is available yet for this article.
March 10, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28286725/remarkable-diagnostic-magnetic-resonance-imaging-findings-in-sellar-xanthogranuloma-report-of-three-first-cases-in-latin-america
#15
Mario Tapia Céspedes, Jaime Pinto Vargas, Fernando Andrade Yañez, Loreto Spencer León, Pablo Álvarez Arancibia, Thomas Schmidt Putz
The sellar xanthogranuloma is a rare lesion of the sellar-parasellar region difficult to differentiate from other tumors such as craniopharyngiomas or Rathke's cleft cyst in the preoperative evaluation. As they are recently recognized as a separate entity and the few number of reports in the literature, its etiology is unknown and its impact remains uncertain. This article will describe the first three cases reported in Latin America, identified in one of them an imaging feature that may be helpful to elucidate an imaging growth pattern...
January 2017: Journal of Neurological Surgery Reports
https://www.readbyqxmd.com/read/28262109/adult-xanthogranulomatous-disease-of-the-orbit-clinical-presentations-evaluation-and-management
#16
J M Ortiz Salvador, D Subiabre Ferrer, A Pérez Ferriols
Adult xanthogranulomatous disease of the orbit refers to a heterogeneous group of clinical syndromes with differing degrees of systemic involvement and distinct prognoses. The different syndromes all present clinically with progressively enlarging, yellowish lesions of the orbit. Histologically, the lesions are characterized by an inflammatory infiltrate of foam cells and Touton-type multinucleated giant cells. The xanthomatized histiocytes are CD68(+), S100(-), and CD1a(-). There are 4 clinical forms of xanthogranulomatous disease of the orbit: adult xanthogranulomatous disease of the orbit, adult onset asthma and periocular xanthogranuloma, necrobiotic xanthogranuloma, and Erdheim-Chester disease...
March 2, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28244093/severe-systemic-juvenile-xanthogranuloma-is-an-indication-for-systemic-therapy
#17
COMMENT
R Fölster-Holst
No abstract text is available yet for this article.
February 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28236350/review-of-xanthomatous-lesions-of-the-sella
#18
B K Kleinschmidt-DeMasters, Kevin O Lillehei, Todd C Hankinson
Xanthomatous lesions of the sellar region have traditionally been divided into two separate categories, xanthomatous hypophysitis (XH) and xanthogranuloma (XG) of the sellar region. The seminal article on XH, a condition typified by foamy histiocytes and lymphoplasmacytic infiltrates in the pituitary gland/sellar region, but usually little or no hemosiderin pigment, detailed three patients. However, most reports since that time have been single cases, making understanding of the entity difficult. In contrast, the seminal report on XG, characterized by sellar region cholesterol clefts, lymphoplasmacytic infiltrates, marked hemosiderin deposits, fibrosis, multinucleated giant cells around cholesterol clefts, eosinophilic granular necrotic debris, and accumulation of macrophages, included 37 patients, allowing more insights into etiology...
May 2017: Brain Pathology
https://www.readbyqxmd.com/read/28161231/-juvenile-xanthogranuloma-in-a-4-year-old-child
#19
D Raffin, C Gardair-Bouchy, M Samimi, P Guadagnin, A Maruani
No abstract text is available yet for this article.
February 1, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28127621/periocular-necrobiotic-xanthogranuloma-successfully-treated-with-intravenous-immunoglobulin
#20
Judit Lukács, Steven Goetze, Peter Elsner
No abstract text is available yet for this article.
January 27, 2017: Acta Dermato-venereologica
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