Abstract：
OBJECTIVE: Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by the accumulation of hyaline-like material in the skin, oral mucosa, larynx, and brain. This study aimed to evaluate the dermatological findings and treatment responses of patients diagnosed with LP.
METHODS: This retrospective study included 41 patients diagnosed with LP at our clinic between May 2018 and January 2023. The diagnosis of LP was established in 22 patients by detecting mutations in the ECM1 gene. In comparison, in 19 patients, it was based on typical clinical findings and histopathological examination of lesioned skin. Clinical and demographic data such as dermatological findings, treatments received, and responses to treatment were recorded from patient files.
RESULTS: All patients exhibited skin thickening and acneiform scars. The most commonly observed additional dermatological findings were moniliform blepharosis (60.9%), varioliform scars (29.2%), waxy papules and plaques (24.3%), and blisters with crusts (19.5%). Verrucous lesions, diffuse yellow plaques, and scarring alopecia were observed in adult patients, while hypopigmented lesions and blisters with crusts were seen in the pediatric age group. The most frequently used treatments were acitretin (14.6%) and systemic steroids (9.7%). No improvement in skin lesions was observed in patients treated with acitretin, whereas complete resolution of blisters with crusts was noted in patients treated with systemic steroids.
CONCLUSIONS: In addition to the existing literature on dermatological manifestations of LP, hypopigmented lesions and atrophoderma vermiculatum-like lesions can also be observed in these patients. We believe that short-term systemic steroid therapy for vesiculobullous lesions can be considered for treatment. We think prospective studies with more patients and requiring long-term follow-up are needed regarding the effectiveness of acitretin treatment.
METHODS: This retrospective study included 41 patients diagnosed with LP at our clinic between May 2018 and January 2023. The diagnosis of LP was established in 22 patients by detecting mutations in the ECM1 gene. In comparison, in 19 patients, it was based on typical clinical findings and histopathological examination of lesioned skin. Clinical and demographic data such as dermatological findings, treatments received, and responses to treatment were recorded from patient files.
RESULTS: All patients exhibited skin thickening and acneiform scars. The most commonly observed additional dermatological findings were moniliform blepharosis (60.9%), varioliform scars (29.2%), waxy papules and plaques (24.3%), and blisters with crusts (19.5%). Verrucous lesions, diffuse yellow plaques, and scarring alopecia were observed in adult patients, while hypopigmented lesions and blisters with crusts were seen in the pediatric age group. The most frequently used treatments were acitretin (14.6%) and systemic steroids (9.7%). No improvement in skin lesions was observed in patients treated with acitretin, whereas complete resolution of blisters with crusts was noted in patients treated with systemic steroids.
CONCLUSIONS: In addition to the existing literature on dermatological manifestations of LP, hypopigmented lesions and atrophoderma vermiculatum-like lesions can also be observed in these patients. We believe that short-term systemic steroid therapy for vesiculobullous lesions can be considered for treatment. We think prospective studies with more patients and requiring long-term follow-up are needed regarding the effectiveness of acitretin treatment.
摘要：
目的：脂类蛋白沉积症（LP）是一种罕见的常染色体隐性遗传疾病，其特征是皮肤中透明物质的积累，口腔粘膜，喉部,和大脑。这项研究旨在评估诊断为LP的患者的皮肤病学发现和治疗反应。
方法：这项回顾性研究包括2018年5月至2023年1月在我们诊所诊断为LP的41例患者。通过检测ECM1基因的突变，在22例患者中建立了LP的诊断。相比之下,在19名患者中，它是基于典型的临床表现和病变皮肤的组织病理学检查。临床和人口统计学数据，如皮肤病学发现，接受治疗,对治疗的反应记录在患者档案中.
结果：所有患者均出现皮肤增厚和痤疮样疤痕。最常见的其他皮肤病学发现是念珠状眼睑（60.9％），斑纹疤痕（29.2%），蜡状丘疹和斑块（24.3％），和有结壳的水泡(19.5%)。疣状病变,弥漫性黄色斑块，在成年患者中观察到瘢痕性脱发，而儿童年龄组的色素沉着性病变和有结皮的水疱。最常用的治疗方法是阿维A（14.6％）和全身性类固醇（9.7％）。在接受阿维A治疗的患者中，没有观察到皮肤病变的改善，而在接受全身性类固醇治疗的患者中，出现有结皮的水泡完全消退。
结论：除了关于LP的皮肤病学表现的现有文献外，在这些患者中也可以观察到色素沉着性病变和灰皮病状病变。我们认为，短期全身性类固醇治疗可考虑用于治疗膀胱小叶病变。我们认为需要对更多患者进行前瞻性研究，并需要长期随访，以了解阿维A治疗的有效性。
方法：这项回顾性研究包括2018年5月至2023年1月在我们诊所诊断为LP的41例患者。通过检测ECM1基因的突变，在22例患者中建立了LP的诊断。相比之下,在19名患者中，它是基于典型的临床表现和病变皮肤的组织病理学检查。临床和人口统计学数据，如皮肤病学发现，接受治疗,对治疗的反应记录在患者档案中.
结果：所有患者均出现皮肤增厚和痤疮样疤痕。最常见的其他皮肤病学发现是念珠状眼睑（60.9％），斑纹疤痕（29.2%），蜡状丘疹和斑块（24.3％），和有结壳的水泡(19.5%)。疣状病变,弥漫性黄色斑块，在成年患者中观察到瘢痕性脱发，而儿童年龄组的色素沉着性病变和有结皮的水疱。最常用的治疗方法是阿维A（14.6％）和全身性类固醇（9.7％）。在接受阿维A治疗的患者中，没有观察到皮肤病变的改善，而在接受全身性类固醇治疗的患者中，出现有结皮的水泡完全消退。
结论：除了关于LP的皮肤病学表现的现有文献外，在这些患者中也可以观察到色素沉着性病变和灰皮病状病变。我们认为，短期全身性类固醇治疗可考虑用于治疗膀胱小叶病变。我们认为需要对更多患者进行前瞻性研究，并需要长期随访，以了解阿维A治疗的有效性。
