دورية أكاديمية
A Rare Case of Pediatric Xanthoma Disseminatum With Diabetes Insipidus and BRAF p.V600E Mutation.
| العنوان: | A Rare Case of Pediatric Xanthoma Disseminatum With Diabetes Insipidus and BRAF p.V600E Mutation. |
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| المؤلفون: | Luo S; Department of Dermatology, The Second Xiangya Hospital of Central South University, Changsha, China., Tan Y, Zhang G |
| المصدر: | The American Journal of dermatopathology [Am J Dermatopathol] 2022 Apr 01; Vol. 44 (4), pp. 287-290. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 7911005 Publication Model: Print Cited Medium: Internet ISSN: 1533-0311 (Electronic) Linking ISSN: 01931091 NLM ISO Abbreviation: Am J Dermatopathol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Hagerstown, MD : Lippincott Williams & Wilkins Original Publication: New York, Masson Publishing USA. |
| مواضيع طبية MeSH: | Diabetes Insipidus* , Genetic Predisposition to Disease*, Histiocytosis, Non-Langerhans-Cell/*diagnosis, Antineoplastic Agents/therapeutic use ; Asian People ; Child ; Diagnosis, Differential ; Female ; Histiocytosis, Non-Langerhans-Cell/complications ; Histiocytosis, Non-Langerhans-Cell/drug therapy ; Histiocytosis, Non-Langerhans-Cell/genetics ; Humans ; Mutation ; Proto-Oncogene Proteins B-raf/genetics |
| مستخلص: | Abstract: Xanthoma disseminatum (XD) is a rare non-Langerhans cell histiocytosis characterized by xanthomatous lesions in the absence of hyperlipidemia. XD usually develops in young adults, and there are rare cases among children. BRAF mutations are frequent in Langerhans cell histiocytosis and Erdheim-Chester disease but absent or only rarely detected in other histiocytosis. Herein, we described a 6-year-old Chinese girl presented with generalized skin lesions and diabetes insipidus for 5 months. There were multiple periorbital xanthelasma with histopathological features of foamy histiocytes infiltration with Touton cells. Pituitary magnetic resonance imaging showed pituitary enlargement and pituitary stalk thickening. The presence of BRAF p.V600E mutation makes this case distinctive and also offers a potential therapeutic target. According to our review of the literature, this is the first pediatric XD with diabetes insipidus and BRAF mutation. Competing Interests: The authors declare no conflicts of interest. (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.) |
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| المشرفين على المادة: | 0 (Antineoplastic Agents) EC 2.7.11.1 (Proto-Oncogene Proteins B-raf) |
| تواريخ الأحداث: | Date Created: 20211230 Date Completed: 20220321 Latest Revision: 20230908 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1097/DAD.0000000000002117 |
| PMID: | 34966053 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1533-0311 |
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| DOI: | 10.1097/DAD.0000000000002117 |