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Moniliform Blepharosis of Lipoid Proteinosis

Moniliform Blepharosis of Lipoid Proteinosis Clinical Review & Education Ophthalmic Images Michel J. Belliveau, MD; Alaa Alkhotani, MD; Asim Ali, MD Figure. Confluent pearly elevations surrounding the base of the cilia. Two brothers (both younger than 13 years) were evaluated for Discussion eyelid margin lesions (Figure). Lesions were present on all 4 lids Lipoidproteinosis(Urbach-Wiethedisease)isarareautosomalreces- in both boys. The lesions were itchy and did not respond to steroid sive disorder caused by loss of function mutations in the extracellu- or antibiotic therapy. Demodex test results were negative and larmatrixprotein1gene.Theskinandmucosaoftheupperairwayare tea tree oil was ineffective. A full-thickness eyelid biopsy predominantly affected and hoarseness is a common symptom. La- showed dense deposits of eosinophilic hyaline material in the der- ryngealandpharyngealinfiltrationmayleadtorespiratorydistressor mis. The lesions are examples of the moniliform blepharosis of li- dysphagia. Detection of these lesions by an ophthalmologist should poid proteinosis. prompt a referral for an otolaryngological assessment. ARTICLE INFORMATION Corresponding Author: Asim Ali, MD, Department Conflict of Interest Disclosures: All authors have of Ophthalmology and Vision Sciences, University completed and submitted the ICMJE Form for Author Affiliations: Department of Ophthalmology of Toronto, The Hospital for Sick Children, 555 Disclosure of Potential Conflicts of Interest and and Vision Sciences, University of Toronto, Toronto, University Ave, Toronto, http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA Ophthalmology American Medical Association

Moniliform Blepharosis of Lipoid Proteinosis

Moniliform Blepharosis of Lipoid Proteinosis

Abstract

Clinical Review & Education Ophthalmic Images Michel J. Belliveau, MD; Alaa Alkhotani, MD; Asim Ali, MD Figure. Confluent pearly elevations surrounding the base of the cilia. Two brothers (both younger than 13 years) were evaluated for Discussion eyelid margin lesions (Figure). Lesions were present on all 4 lids Lipoidproteinosis(Urbach-Wiethedisease)isarareautosomalreces- in both boys. The lesions were itchy and did not respond to steroid sive disorder caused by loss of function...
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Publisher
American Medical Association
Copyright
Copyright 2015 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.
ISSN
2168-6165
eISSN
2168-6173
DOI
10.1001/jamaophthalmol.2015.0688
pmid
26158437
Publisher site
See Article on Publisher Site

Abstract

Clinical Review & Education Ophthalmic Images Michel J. Belliveau, MD; Alaa Alkhotani, MD; Asim Ali, MD Figure. Confluent pearly elevations surrounding the base of the cilia. Two brothers (both younger than 13 years) were evaluated for Discussion eyelid margin lesions (Figure). Lesions were present on all 4 lids Lipoidproteinosis(Urbach-Wiethedisease)isarareautosomalreces- in both boys. The lesions were itchy and did not respond to steroid sive disorder caused by loss of function mutations in the extracellu- or antibiotic therapy. Demodex test results were negative and larmatrixprotein1gene.Theskinandmucosaoftheupperairwayare tea tree oil was ineffective. A full-thickness eyelid biopsy predominantly affected and hoarseness is a common symptom. La- showed dense deposits of eosinophilic hyaline material in the der- ryngealandpharyngealinfiltrationmayleadtorespiratorydistressor mis. The lesions are examples of the moniliform blepharosis of li- dysphagia. Detection of these lesions by an ophthalmologist should poid proteinosis. prompt a referral for an otolaryngological assessment. ARTICLE INFORMATION Corresponding Author: Asim Ali, MD, Department Conflict of Interest Disclosures: All authors have of Ophthalmology and Vision Sciences, University completed and submitted the ICMJE Form for Author Affiliations: Department of Ophthalmology of Toronto, The Hospital for Sick Children, 555 Disclosure of Potential Conflicts of Interest and and Vision Sciences, University of Toronto, Toronto, University Ave, Toronto,

Journal

JAMA OphthalmologyAmerican Medical Association

Published: Jul 1, 2015

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