Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
Universidad Central del Caribe, Bayamón, Puerto Rico.
Int J Dermatol. 2021 Mar;60(3):261-271. doi: 10.1111/ijd.15111. Epub 2020 Aug 9.
Hidradenitis suppurativa (HS) is a chronic inflammatory follicular disorder that involves painful nodules, abscesses, and tunnels of intertriginous sites. Although the etiology has not been fully elucidated, recent studies have highlighted its association with chromosomal abnormalities.We present a rare case of HS in a patient with Trisomy 1q;13 and systematically summarize the association between HS and chromosomal abnormalities. A search was conducted using MEDLINE and EMBASE in OVID database. Original studies reporting HS among human subjects with chromosomal abnormalities were included. Patient demographics, disease symptomology, clinical features, and treatment histories were extracted and summarized.Thirteen studies describing 428 cases met the inclusion criteria. Of the 13 articles, nine studies reported patients with HS and Down syndrome (DS), one article investigated HS and Smith-Magenis syndrome (SMS), and three articles analyzed HS and Patau syndrome (PS). While increased prevalence of HS was found in populations with DS, with suggested mechanisms involving amyloid precursor protein cleavage product, keratinocyte proliferation, and follicular plugging, the associations between HS and both SMS and PS remain inconclusive because of limited studies with small sample size.Although evidence suggests that the genetic regulation of chromosome 21 may be implicated in the association between HS and DS, this association may be confounded by additional factors that increase the risk of HS. Further research with larger sample sizes must be conducted to strengthen our understanding of the association between HS and chromosomal abnormalities.
化脓性汗腺炎（HS）是一种慢性炎症性毛囊疾病，涉及疼痛性结节、脓肿和皱褶部位的隧道。尽管其病因尚未完全阐明，但最近的研究强调了其与染色体异常的关联。我们报告了一例 1q;13 三体患者中的 HS 罕见病例，并系统总结了 HS 与染色体异常之间的关联。使用 OVID 数据库中的 MEDLINE 和 EMBASE 进行了检索。纳入了报告有染色体异常的人类患者中存在 HS 的原始研究。提取并总结了患者人口统计学、疾病症状、临床特征和治疗史。符合纳入标准的研究有 13 篇，描述了 428 例病例。在这 13 篇文章中，有 9 篇报道了 HS 和唐氏综合征（DS）患者，1 篇探讨了 HS 和 Smith-Magenis 综合征（SMS），还有 3 篇分析了 HS 和帕套综合征（PS）。虽然 DS 患者中 HS 的患病率增加，其机制涉及淀粉样前体蛋白裂解产物、角质形成细胞增殖和毛囊堵塞，但由于研究数量有限且样本量小，HS 与 SMS 和 PS 之间的关联仍不确定。尽管有证据表明，染色体 21 的基因调控可能与 DS 中的 HS 有关，但这种关联可能受到其他增加 HS 风险的因素的影响。需要进行更大样本量的研究，以加强我们对 HS 与染色体异常之间关联的理解。
