Clinical Spectrum, Quality of Life, BRAF Mutation Status and Treatment of Skin Involvement in Adult Langerhans Cell Histiocytosis.
Clinical Spectrum, Quality of Life, BRAF Mutation Status and Treatment of Skin Involvement in Adult Langerhans Cell Histiocytosis.
复制标题
成人朗格汉斯细胞组织细胞增多症皮肤受累的临床谱、生活质量、BRAF 突变状态和治疗。
DOI：
10.2340/00015555-2674
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发表时间：
2017
影响因子：
3.6
通讯作者：
A. Tazi
中科院分区：
文献类型：
--
作者：
E. Crickx;J. Bouaziz;G. Lorillon;Mathilde de Menthon;F. Cordoliani;E. Bugnet;M. Bagot;M. Rybojad;S. Mourah;A. Tazi
朗格汉斯细胞组织细胞增多症是一种罕见的组织细胞疾病，其皮肤受累和治疗在成人中的描述很少。这项在国家参考中心进行的回顾性单中心研究的目的是描述朗格汉斯细胞组织细胞增多症成年患者的临床特征、生活质量、BRAF 突变状态和皮肤受累的结果。纳入 25 名患者（14 名女性，平均年龄 47 岁），中位随访时间为 33 个月（范围 4-420 个月）。尽管体表受累程度较低，但患者的皮肤病生活质量较差。在分析的 18 名患者中，有 8 名 (45%) 检测到 BRAFV600 突变。八名患者患有相关恶性肿瘤。使用了多种治疗方案，包括手术、局部类固醇和卡莫司汀、沙利度胺、甲氨蝶呤、长春花碱和类固醇和克拉屈滨。这项研究强调了评估朗格汉斯细胞组织细胞增多症成年患者的生活质量和筛查相关恶性肿瘤的必要性。
Langerhans cell histiocytosis is a rare histiocytic disorder for which skin involvement and management are poorly described in adults. The aim of this retrospective monocentric study in a national reference centre is to describe the clinical characteristics, quality of life, BRAF mutation status and outcomes of skin involvement in adult patients with Langerhans cell histiocytosis. Twenty-five patients (14 females, mean age 47 years) were included, with a median follow-up of 33 months (range 4-420 months). Patients experienced poor dermatological quality of life despite low body surface involvement. BRAFV600 mutations were detected in 8 of the 18 patients analysed (45%). Eight patients had an associated malignancy. Several treatment options were used and consisted of surgery, topical steroids and carmustine, thalidomide, methotrexate, vinblastine and steroids and cladribine. This study highlights the need to evaluate quality of life and to screen for associated malignancy in adult patients with Langerhans cell histiocytosis.