散发黄色瘤(XD)是皮肤非朗格汉斯组织细胞增生症范围内的一种罕见的正常脂质粘膜皮肤黄色瘤病。管理XD带来了巨大的挑战,有限的可用数据。本研究旨在综合评估现有文献中关于XD的临床特征和治疗结果。系统搜索MEDLINE,Embase,PubMed表演了,使用“黄色瘤”和“蒙哥马利综合征”作为搜索词,没有限制。筛选由2名审阅者一式两份进行。一百五十一项研究符合纳入标准,产生166例XD(106例女性,60男性),诊断时平均年龄35.3岁(范围:9个月-87岁)。XD通常表现为黄色至棕色聚结丘疹/斑块和结节。分布主要影响面部(n=116/166),挠曲(n=45/166),树干(n=65/166),和生殖器/腹股沟区(n=63/166)。大多数病例(99.4%;n=165/166)表现为皮外表现,包括脑垂体和口咽.治疗方案呈现低完全应答率(CRR)。报告结果的治疗包括手术切除(n=17/99),全身性类固醇(n=40/99),免疫抑制剂/免疫调节剂(n=73/99),基于能量的设备(n=7/99),降脂药(n=24/99),冷冻疗法(n=6/99),激光器(n=10/99),局部类固醇(n=6/99),口服类维生素A(n=2/99),和放射治疗(n=5/99),CCR为23.5%(n=4/17),5.0%(n=2/40),9.6%(n=7/73),14.3%(n=1/7),4.2%(n=1/24),16.7%(n=1/6),10.0%(n=1/10),0%(n=0/6),0%(n=0/2),和0%(n=0/5),分别。最有希望的疗法是克拉屈滨,在所有报告的治疗中,CRR最高,为27.1%(n=6/22),无缓解率最低(9.1%;n=2/22)。这篇综述证实了XD的系统性表现的高患病率。治疗选择差异很大;因此,需要进一步的研究来建立这种具有挑战性的状况的管理策略。
Xanthoma disseminatum (XD) is a rare normolipidemic mucocutaneous xanthomatosis within the spectrum of cutaneous non-Langerhans histiocytosis. Managing XD poses substantial challenges, with limited available data. This study aims to comprehensively evaluate existing literature on clinical features of XD and treatment outcomes. A systematic search of MEDLINE, Embase, and PubMed was performed, using \"xanthoma disseminatum\" and \"Montgomery syndrome\" as search terms, without restrictions. Screening was performed in duplicate by 2 reviewers. One hundred fifty-one studies met the inclusion criteria, yielding 166 cases of XD (106 females, 60 males), mean age at diagnosis 35.3 years (range: 9 months-87 years). XD typically presented as yellow-to-brown coalescing papules/plaques and nodules. Distribution affects mainly the face (n = 116/166), flexures (n = 45/166), trunk (n = 65/166), and genitalia/inguinal areas (n = 63/166). Most cases (99.4%; n = 165/166) exhibited extracutaneous manifestations, including the pituitary gland and the oropharynx. Treatment options rendered low complete response rates (CRRs). Treatments with reported outcomes included surgical resection (n = 17/99), systemic steroids (n = 40/99), immunosuppressants/immunomodulators (n = 73/99), energy-based devices (n = 7/99), lipid-lowering agents (n = 24/99), cryotherapy (n = 6/99), lasers (n = 10/99), topical steroids (n = 6/99), oral retinoids (n = 2/99), and radiotherapy (n = 5/99), with CCRs of 23.5% (n = 4/17), 5.0% (n = 2/40), 9.6% (n = 7/73), 14.3% (n = 1/7), 4.2% (n = 1/24), 16.7% (n = 1/6), 10.0% (n = 1/10), 0% (n = 0/6), 0% (n = 0/2), and 0% (n = 0/5), respectively. The most promising therapy is cladribine, with the highest CRR of 27.1% (n = 6/22) and the lowest no response rate (9.1%; n = 2/22) of all reported treatments. This review confirms the high prevalence of systemic manifestations in XD. Treatment options vary widely; thus, further research is needed to establish management strategies for this challenging condition.