Hermansky-Pudlak 综合征 1 型和 3 型患者的皮肤表现。
Dermatologic manifestations in patients with the Hermansky-Pudlak syndrome types 1 and 3.
机构信息
Icahn School of Medicine at Mount Sinai, New York City, NY, USA.
Department of Surgery, School of Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan, PR, USA.
出版信息
Orphanet J Rare Dis. 2022 Jul 30;17(1):305. doi: 10.1186/s13023-022-02464-w.
BACKGROUND
The Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous group of diseases characterized by oculocutaneous albinism, bleeding diathesis, and systemic complications. It is the most common genetic disorder in Puerto Rico. These patients are at a significant risk of developing a variety of skin complications and little is known about the prevalence of dermatologic diagnoses in this population.
OBJECTIVES
To report dermatologic manifestations in patients with Hermansky-Pudlak syndrome (HPS). Secondary aims include skin concerns, sun protection habits, barriers to dermatologic care, and skin cancer knowledge.
METHODS
Cross-sectional study with twenty-nine Puerto Rican patients who carried a clinical diagnosis of HPS type 1 or type 3 through a telephonic questionnaire.
RESULTS
Twenty-nine patients participated with a mean (SD) age of 37.3 (16.8) years and the majority were female (69%). The most common diagnoses were skin cancer (34.5%), acne (34.5%), bacterial skin infections (34.5%), warts (24%), urticaria (17.2%), and psoriasis (17.2%). The most common skin concerns were dry skin (62.1%), hair loss (58.9%), redness (34.5%), moles (31%), and rash (31%). The most common sun protection behavior was wearing a shirt that covers the shoulders (93.1%, often or always) and the least common was wearing a hat (24.1%, often or always). Higher income was significantly associated with being more likely to use sunscreen often or always (OR = 3.38, 95% CI 1.02-11.18, p = 0.04). Those in northern urban areas were significantly less likely to report barriers to dermatologic care (OR = 0.13, 95% CI 0.02-0.76, p = 0.02).
CONCLUSIONS
This study provides an important overview of the most common self-reported skin manifestations in patients with HPS. Unfortunately, a high prevalence of cutaneous malignancy was reported. The results stress the need for adequate care and potential interventions to promote sun protection behaviors and skin cancer prevention.
背景
Hermansky-Pudlak 综合征（HPS）是一组遗传异质性疾病，其特征为眼皮肤白化病、出血倾向和全身并发症。它是波多黎各最常见的遗传疾病。这些患者发生各种皮肤并发症的风险显著增加，但对于该人群的皮肤科诊断患病率知之甚少。
目的
报告 Hermansky-Pudlak 综合征（HPS）患者的皮肤表现。次要目的包括皮肤问题、防晒习惯、皮肤科就诊障碍以及皮肤癌知识。
方法
通过电话问卷调查，对 29 名经临床诊断为 HPS 1 型或 3 型的波多黎各患者进行横断面研究。
结果
29 名患者参与了研究，平均（SD）年龄为 37.3（16.8）岁，大多数为女性（69%）。最常见的诊断包括皮肤癌（34.5%）、痤疮（34.5%）、细菌性皮肤感染（34.5%）、疣（24%）、荨麻疹（17.2%）和银屑病（17.2%）。最常见的皮肤问题是皮肤干燥（62.1%）、脱发（58.9%）、发红（34.5%）、痣（31%）和皮疹（31%）。最常见的防晒行为是穿能遮住肩膀的衬衫（93.1%，经常或总是），最不常见的是戴帽子（24.1%，经常或总是）。较高的收入与更常使用防晒霜（OR=3.38，95%CI 1.02-11.18，p=0.04）显著相关。居住在北部城市地区的人报告皮肤科就诊障碍的可能性显著较低（OR=0.13，95%CI 0.02-0.76，p=0.02）。
结论
本研究提供了 HPS 患者最常见的自我报告皮肤表现的重要概述。不幸的是，报告了较高的皮肤恶性肿瘤患病率。结果强调了提供适当护理和潜在干预措施以促进防晒行为和皮肤癌预防的必要性。
Zotero 插件