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Punctal and peri-punctal involvement in Urbach-Wiethe syndrome: case report and review of literature.
Orbit
December 2019
Govindram Seksaria Institute of Dacryology, L.V. Prasad Eye Institute, Hyderabad , India.
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.
View Article and Find Full Text PDFA Child With a Hoarse Cry and Intracranial Calcification.
Pediatr Neurol
October 2018
Dept. of Pediatric Neurology, Childrens Hospital of Michigan, Wayne State University, Detroit, Michigan.
Urbach-Weithe disease (lipoid proteinosis): A classical presentation.
Indian Dermatol Online J
April 2016
Department of Dermatology, Venereology and Leprology, Pandit Bhagwat Dayal Sharma Post Graduate Institute of Medical Sciences, Rohtak, Haryana, India.
Urbach-Weithe disease.
Indian Pediatr
June 2014
Department of Dermatology, Jaslok Hospital and Research Centre, Mumbai, India.
Lipoid Proteinosis in two Iranian Sisters: A Case Report and Review of Literature.
Iran Red Crescent Med J
April 2011
Department of Dermatology, Skin Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Lipoid proteinosis is a rare autosomal recessive disorder which may be seen within a family very occasionally. Herein, we report lipoid proteinosis in two sisters characterized by verrucous lesions and hoarseness of voice, dysphagia and multiple beaded papules along the margins of their eyelids, fissured lips and thick ferenulum.
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