Activating MAPK1 (ERK2) mutation in an aggressive case of disseminated juvenile xanthogranuloma
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Activating MAPK1 (ERK2) mutation in an aggressive case of disseminated juvenile xanthogranuloma
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 constitut...
متن کاملJuvenile Xanthogranuloma: Report of a Case.
JUVENILE xanthogranuloma, also commonly known as naevoxantho-endothelioma, was first described as a skin disease in 1909 (McDonaugh, 1909), but it was not until forty years later that the first intra-ocular case was reported in America (Blank, Eglick, and Beerman, 1949). Some twenty to thirty cases have since been described (Sanders, 1962), but our case is the first to be reported in the United...
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806 Ann Dermatol Received March 16, 2016, Revised November 3, 2016, Accepted for publication November 7, 2016 Corresponding author: Hei Sung Kim, Department of Dermatology, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, 56 Dongsu-ro, Bupyeong-gu, Incheon 21431, Korea. Tel: 82-32-280-5700, Fax: 82-32-506-9514, E-mail: [email protected] This is an Open Ac...
متن کاملJuvenile Xanthogranuloma.
Juvenile xanthogranuloma is a rare disorder which may be present at birth, or appears in infancy. It can also occur in adults of all ages, appears with lesions that may be solitary or multiple nodules several millimeters in diameter. The predilection sites are head and neck, but it may occur on the extremities and trunk also. Internal organs such as lung, kidney, gastrointestinal tract etc. can...
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Palmer and Bowling [1] have recently described the dermoscopic features in 3 cases of juvenile xanthogranuloma (JXG). A dermoscopic pattern characterized by orange-yellow background with ‘clouds’ of paler yellow deposits was observed in all patients. We have had recent occasion to observe many cases of single and multiple JXG and noted a further constant dermoscopic feature, namely branched and...
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ژورنال
عنوان ژورنال: Oncotarget
سال: 2017
ISSN: 1949-2553
DOI: 10.18632/oncotarget.17521