Abstract：
OBJECTIVE: Most studies about Papillon-Lefèvre syndrome (PLS) are limited to case reports and patients of the same nationality. This study aimed to determine the self-reported prevalence of signs, symptoms and treatment effectiveness in PLS patients from five Latin American countries.
METHODS: An online survey was conducted among adult and paediatric patients from Mexico, Argentina, Colombia and Brazil. Data were collected using multiple-choice, open-ended and image-chooser questions on demographics, signs and symptoms, perceived treatment effectiveness and quality of life.
RESULTS: Seventeen patients (10 males and 7 females) aged 4-47 years were surveyed. All had palmoplantar hyperkeratosis. Other affected sites were the feet and hand dorsum (82.35%), Achilles tendon (88.24%), forearms (58.82%), legs (29.41%) and glutes (23.53%). They frequently presented hyperhidrosis and nail pitting. Four had a history of delayed umbilical cord separation. All used topical treatments, with moderate effectiveness; half used oral retinoids, perceived as highly effective. Most reported decreased quality of life and walking difficulties.
CONCLUSIONS: The study\'s results align with prior research on PLS, but reveal new insights, including the impact on patients\' quality of life and a history of delayed umbilical cord separation. These findings warrant consideration in future research and patient care.
METHODS: An online survey was conducted among adult and paediatric patients from Mexico, Argentina, Colombia and Brazil. Data were collected using multiple-choice, open-ended and image-chooser questions on demographics, signs and symptoms, perceived treatment effectiveness and quality of life.
RESULTS: Seventeen patients (10 males and 7 females) aged 4-47 years were surveyed. All had palmoplantar hyperkeratosis. Other affected sites were the feet and hand dorsum (82.35%), Achilles tendon (88.24%), forearms (58.82%), legs (29.41%) and glutes (23.53%). They frequently presented hyperhidrosis and nail pitting. Four had a history of delayed umbilical cord separation. All used topical treatments, with moderate effectiveness; half used oral retinoids, perceived as highly effective. Most reported decreased quality of life and walking difficulties.
CONCLUSIONS: The study\'s results align with prior research on PLS, but reveal new insights, including the impact on patients\' quality of life and a history of delayed umbilical cord separation. These findings warrant consideration in future research and patient care.
摘要：
目的：大多数关于Papillon-Lefèvre综合征（PLS）的研究仅限于病例报告和相同国籍的患者。这项研究旨在确定自我报告的患病率，来自五个拉丁美洲国家的PLS患者的症状和治疗效果。
方法：对来自墨西哥的成人和儿科患者进行了一项在线调查，阿根廷,哥伦比亚和巴西。数据是使用多项选择收集的，关于人口统计的开放式和图像选择器问题，症状和体征,感知治疗效果和生活质量。
结果：调查了17名患者（10名男性和7名女性），年龄在4-47岁之间。所有患者均有掌足底角化过度。其他受影响的部位是脚背和手背(82.35%),跟腱(88.24%),前臂（58.82%），腿（29.41%）和臀肌（23.53%）。他们经常表现为多汗症和指甲凹陷。四个人有脐带延迟分离的病史。所有使用的局部治疗，效果中等；一半使用口服类维生素A，被认为是非常有效的。大多数人报告生活质量下降和行走困难。
结论：该研究的结果与先前关于PLS的研究一致，但揭示了新的见解，包括对患者生活质量和脐带延迟分离史的影响。这些发现值得在未来的研究和患者护理中考虑。
方法：对来自墨西哥的成人和儿科患者进行了一项在线调查，阿根廷,哥伦比亚和巴西。数据是使用多项选择收集的，关于人口统计的开放式和图像选择器问题，症状和体征,感知治疗效果和生活质量。
结果：调查了17名患者（10名男性和7名女性），年龄在4-47岁之间。所有患者均有掌足底角化过度。其他受影响的部位是脚背和手背(82.35%),跟腱(88.24%),前臂（58.82%），腿（29.41%）和臀肌（23.53%）。他们经常表现为多汗症和指甲凹陷。四个人有脐带延迟分离的病史。所有使用的局部治疗，效果中等；一半使用口服类维生素A，被认为是非常有效的。大多数人报告生活质量下降和行走困难。
结论：该研究的结果与先前关于PLS的研究一致，但揭示了新的见解，包括对患者生活质量和脐带延迟分离史的影响。这些发现值得在未来的研究和患者护理中考虑。
