H. Bangaru, S. Shankar, N. Lingaiah, SR Shivani, BY Praveen, Tejaswini Acharya
{"title":"A Rare Case Report of Lipoid Proteinosis with Distichiasis and Trichomegaly: An Interesting Entity","authors":"H. Bangaru, S. Shankar, N. Lingaiah, SR Shivani, BY Praveen, Tejaswini Acharya","doi":"10.4103/cdr.cdr_106_21","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":34880,"journal":{"name":"Clinical Dermatology Review","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Dermatology Review","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/cdr.cdr_106_21","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
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.