伴有肛瘘和毛细血管扩张的类脂样蛋白病的罕见病例报告:一个有趣的实体

H. Bangaru, S. Shankar, N. Lingaiah, SR Shivani, BY Praveen, Tejaswini Acharya
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引用次数: 0

摘要

类脂样蛋白病(Lipoid proteinosis,LP)是一种罕见的常染色体隐性遗传疾病,其特征是由于细胞外基质 1 基因突变而导致皮肤、口腔和喉咙中浸润了周期性酸性希氏(PAS)阳性的耐弹性蛋白酶透明物质。临床特征为面部和全身出现串珠状眼睑丘疹、蜡样丘疹、结节、斑块和痤疮样痘疤。我们报告了一例累及皮肤、眼睛、大脑、口腔粘膜和喉部的 LP 病例,组织病理学证实其真皮层有 PAS 阳性和抗 diastase 沉积。患者使用阿曲汀 0.5 毫克/千克/天治疗 6 个月后,皮损和语言质量均有良好反应,随访 1 年未再复发。由于目前尚无根治 LP 的特效疗法,阿曲汀是一种非常有用的药物,可改善患者的生活质量、语言能力和外观。
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A Rare Case Report of Lipoid Proteinosis with Distichiasis and Trichomegaly: An Interesting Entity
Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by infiltration of periodic acid schiff (PAS)-positive diastase-resistant hyaline material in the skin, oral cavity, and larynx caused by a mutation in the extracellular matrix 1 gene. Clinically characterized by beaded eyelid papules, waxy papules, nodules, plaques, and acneiform pock-like scars over the face and body. We report a case of LP, with involvement of the skin, eyes, brain, oral mucosa, and larynx, histopathologically confirmed by PAS-positive and diastase-resistant deposition in the dermis. The patient showed good response in skin lesions and quality of speech with 6-month of therapy of acitretin 0.5 mg/kg/day and followed up for 1 year without recurrences. As there is no curative and specific therapy for LP, acitretin is a very useful drug in improving quality of life, speech, and cosmetic appearance.
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