Lam Megan, Lu Justin Di, Elhadad Levi, Sibbald Cathryn, Alhusayen Raed
Michael G. DeGroote School of Medicine, McMaster University, Hamilton, ON, Canada.
College of Biological Sciences, University of Guelph, Guelph, ON, Canada.
JMIR Dermatol. 2022 Feb 8;5(1):e33391. doi: 10.2196/33391.
Down syndrome (DS) has been associated with cardiovascular, gastrointestinal, and immune-related abnormalities. Several dermatologic conditions, including hidradenitis suppurativa, have also been found to be associated with DS.
The objective of this study was to characterize the prevalence, presentation, and unique features of dermatologic disorders associated with DS.
Electronic searches of EMBASE (via Ovid), MEDLINE (via Ovid), and Web of Science databases were conducted on December 14, 2020. Observational studies including case reports of patients with DS presenting with concomitant primary dermatologic disorder were included.
This systematic review captured 40 observational studies and 99 case reports, including 10 observational studies that examined the prevalence of common skin disorders in patients with DS. The most common dermatologic conditions reported includes atopic dermatitis (8 studies, n=180; 19.7% mean prevalence), hidradenitis suppurativa (15, n=478; 3.2%), ichthyosis (4, n=16; 4.7%), lichen nitidus (6, n=6; 1.1%), psoriasis (21, n=65; 4.8%), alopecia areata (27, n=253; 7.4%), vitiligo (8, n=40; 4.4%), onychomycosis (3, n=198; 24.7%), calcinosis cutis (14, n=15), connective tissue nevi (6, n=6), dermatofibroma (3, n=3), melanoma (3, n=3), syringomas (14, n=182; 21.2%), and elastosis perforans serpiginosa (19, n=24; 0.5%).
Our results indicate an increased prevalence of common cutaneous disorders in patients with DS, particularly infectious, inflammatory, autoimmune, and connective tissue conditions. Current guidelines for the screening, general management, and use of systemic immunomodulatory agents in this patient population are lacking. Patients with DS would benefit from screening for dermatologic disorders not otherwise regularly performed for earlier diagnosis and treatment.
PROSPERO International Prospective Register of Systematic Reviews CRD42021226295; https://www.crd.york.ac.uk/PROSPERO/display_record.php?RecordID=226295.
唐氏综合征（DS）与心血管、胃肠道及免疫相关异常有关。还发现包括化脓性汗腺炎在内的几种皮肤病也与DS相关。
本研究的目的是描述与DS相关的皮肤病的患病率、表现及独特特征。
于2020年12月14日对EMBASE（通过Ovid）、MEDLINE（通过Ovid）和Web of Science数据库进行电子检索。纳入观察性研究，包括伴有原发性皮肤病的DS患者的病例报告。
本系统评价纳入了40项观察性研究和99例病例报告，其中10项观察性研究调查了DS患者常见皮肤疾病的患病率。报告的最常见皮肤病包括特应性皮炎（8项研究，n = 180；平均患病率19.7%）、化脓性汗腺炎（15项，n = 478；3.2%）、鱼鳞病（4项，n = 16；4.7%）、光泽苔藓（6项，n = 6；1.1%）、银屑病（21项，n = 65；4.8%）、斑秃（27项，n = 253；7.4%）、白癜风（8项，n = 40；4.4%）、甲癣（3项，n = 198；24.7%）、皮肤钙化（14项，n = 15）、结缔组织痣（6项，n = 6）、皮肤纤维瘤（3项，n = 3）、黑色素瘤（3项，n = 3）、汗管瘤（14项，n = 182；21.2%）和匐行性穿通性弹力纤维病（19项，n = 24；0.5%）。
我们的结果表明DS患者常见皮肤疾病的患病率增加，尤其是感染性、炎症性、自身免疫性和结缔组织疾病。目前缺乏针对该患者群体进行筛查、一般管理及使用全身免疫调节剂的指南。DS患者将受益于对皮肤病的筛查，而这些筛查在其他情况下通常不会定期进行，以便早期诊断和治疗。
国际前瞻性系统评价注册库PROSPERO CRD42021226295；https://www.crd.york.ac.uk/PROSPERO/display_record.php?RecordID=226295 。
