Punctal and peri-punctal involvement in Urbach-Wiethe syndrome: case report and review of literature
Autor: | Mohammad Javed Ali, Dilip K Mishra, Milind N. Naik |
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Rok vydání: | 2018 |
Předmět: |
medicine.medical_specialty
Peri Intercellular deposition Ophthalmologic Surgical Procedures Periodic acid–Schiff stain Young Adult 03 medical and health sciences 0302 clinical medicine Pathognomonic medicine Humans 030223 otorhinolaryngology Hyaline Nasolacrimal duct Lacrimal Apparatus Diseases business.industry Endoscopy Dermatology Ophthalmology medicine.anatomical_structure Urbach-Wiethe Syndrome Eyelid Diseases 030221 ophthalmology & optometry Lipoid Proteinosis of Urbach and Wiethe Female Stents Eyelid business |
Zdroj: | Orbit. 38:474-476 |
ISSN: | 1744-5108 0167-6830 |
DOI: | 10.1080/01676830.2018.1550791 |
Popis: | Urbach-Weithe syndrome is an exceedingly rare multisystem disorder characterized by pathognomonic clinical findings of multiple beaded papules along the eyelid margins and peri-ocular areas and hoarseness of voice secondary to intercellular deposition of periodic acid Schiff (PAS)-positive hyaline material. Lacrimal drainage anomalies are not well defined in this syndrome; however, punctal involvement and acquired nasolacrimal duct obstructions have been reported. We present a patient of Urbach-Weithe syndrome with bilateral punctal and peri-punctal involvement. |
Databáze: | OpenAIRE |
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