Punctal and peri-punctal involvement in Urbach-Wiethe syndrome: case report and review of literature

ABSTRACT

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.

KEYWORDS:

• Urbach-Wiethe syndrome
• lacrimal
• puncta
• lipoid proteinosis

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the article.

Additional information

Funding

Dr Ali receives royalties from Springer for his textbooks “Principles and Practice of Lacrimal Surgery” and “Atlas of Lacrimal Drainage Disorders”. Other authors have none.