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伴有内斜视的类脂蛋白沉积症:1例罕见病例报告及皮肤镜检查结果

Lipoid Proteinosis with Esotropia: Report of a Rare Case and Dermoscopic Findings.

作者信息

Tabassum Hera, Mushtaq Sabha, Amin Syed Suhail, Adil Mohammad, Mohtashim Mohammad, Akhtar Kafil

机构信息

Department of Dermatology, Jawaharlal Nehru Medical College, Aligarh, Uttar Pradesh, India.

Department of Pathology, Jawaharlal Nehru Medical College, Aligarh, Uttar Pradesh, India.

出版信息

Indian J Dermatol. 2020 Jan-Feb;65(1):53-56. doi: 10.4103/ijd.IJD_523_18.

DOI:10.4103/ijd.IJD_523_18
PMID:32029942
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6986117/
Abstract

Lipoid proteinosis (LP) is a rare progressive autosomal recessive disorder caused by mutations in the extracellular matrix protein 1 gene present on chromosome 1q21. It is characterized by infiltration of hyaline material into the skin, mucosae, and internal organs. Patients present with a classical history of repeated blistering, skin scarring, beaded eyelid papules, waxy papules over the body, and laryngeal and tongue infiltration leading to hoarseness of voice and restricted tongue movement. A variety of ocular manifestations have been described in association with LP. We report a case of a 10-year-old female child with typical features suggestive of LP associated with unilateral esotropia. The case is reported here for its rarity and uncommon association with esotropia hitherto not documented. Dermoscopic findings of the case are also discussed.

摘要

类脂蛋白沉积症(LP)是一种罕见的进行性常染色体隐性疾病,由位于1q21染色体上的细胞外基质蛋白1基因突变引起。其特征是透明物质浸润皮肤、黏膜和内脏器官。患者具有反复水疱形成、皮肤瘢痕、串珠状眼睑丘疹、全身蜡样丘疹以及喉部和舌部浸润导致声音嘶哑和舌运动受限的典型病史。已有多种眼部表现与LP相关的报道。我们报告一例10岁女童,具有提示LP的典型特征,并伴有单侧内斜视。鉴于其罕见性以及此前未记录到的与内斜视的不常见关联,特此报告该病例。同时也讨论了该病例的皮肤镜检查结果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5f0/6986117/eae94e3a68aa/IJD-65-53-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5f0/6986117/1e1130f0543f/IJD-65-53-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5f0/6986117/56f9e06ad285/IJD-65-53-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5f0/6986117/eae94e3a68aa/IJD-65-53-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5f0/6986117/1e1130f0543f/IJD-65-53-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5f0/6986117/56f9e06ad285/IJD-65-53-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5f0/6986117/eae94e3a68aa/IJD-65-53-g003.jpg

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Lipoid Proteinosis with Esotropia: Report of a Rare Case and Dermoscopic Findings.伴有内斜视的类脂蛋白沉积症:1例罕见病例报告及皮肤镜检查结果
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Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).类脂蛋白沉积症定位于1q21,由细胞外基质蛋白1基因(ECM1)突变引起。
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引用本文的文献

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Lipoid proteinosis: A rare genodermatosis with multisystemic manifestations-A case report.类脂蛋白沉积症:一种具有多系统表现的罕见遗传性皮肤病——病例报告
Clin Case Rep. 2024 Feb 6;12(2):e8512. doi: 10.1002/ccr3.8512. eCollection 2024 Feb.

本文引用的文献

1
Lipoid Proteinosis: Skin Resurfacing with Combination of Fractional CO and Non-ablative Radio Frequency: A Rare Case Report.类脂蛋白沉积症:联合分次二氧化碳激光和非剥脱性射频进行皮肤表面重建:1例罕见病例报告
J Cutan Aesthet Surg. 2018 Apr-Jun;11(2):91-94. doi: 10.4103/JCAS.JCAS_29_18.
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Dermatoscopic evaluation of three cases of nevus lipomatosus cutaneous superficialis.三例浅表性脂肪瘤样痣的皮肤镜评估
Indian J Dermatol Venereol Leprol. 2017 May-Jun;83(3):383-386. doi: 10.4103/ijdvl.IJDVL_677_16.
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Ocular manifestations in lipoid proteinosis: A rare clinical entity.
类脂蛋白沉积症的眼部表现:一种罕见的临床病症。
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Urbach-wiethe syndrome and the ophthalmologist: review of the literature and introduction of the first instance of bilateral uveitis.乌尔巴赫-维特综合征与眼科医生:文献综述及双侧葡萄膜炎首例病例介绍
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Interaction of extracellular matrix protein 1 with extracellular matrix components: ECM1 is a basement membrane protein of the skin.细胞外基质蛋白1与细胞外基质成分的相互作用:ECM1是皮肤的一种基底膜蛋白。
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Lipoid proteinosis.类脂蛋白沉积症
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