Ophthalmic Findings of Urbach-Wiethe Disease.

Choi, Dong Gyu; Yu, Young Suk; Park, Kyung Chan

Case Report

Journal of the Korean Ophthalmological Society 1989;30(4):641-658.
Published online April 1, 1989.

Ophthalmic Findings of Urbach-Wiethe Disease.

Dong Gyu Choi, Young Suk Yu, Kyung Chan Park

¹Department of Ophthalmology, College of Medicine, Seoul National University, Seoul, Korea.
²Department of Dermatology, College of Medicine, Seoul National University, Seoul, Korea.

Urbach - Wiethe 병의 안소견

유영석(Young Suk Yu),최동규(Dong Gyu Choi),박경찬(Kyung Chan Park)

Abstract

This is a rare hereditary disease characterized by hyaline and lipid deposits in the skin and mucous membrane. It starts in infancy or early childhood with hoarseness and swallowing difficulty due to the deposition of the characteristic material in the larynx and pharynx. And then, a skin eruption appears over the face and scalp with bulla, papule, crust and depressed scar forms. A pathognomonic feature is the appearance of translucent papules along free margins of eyelids, giving the appearance of "beads on a string". Other ocular involvement is rare and drusen or degeneration may be seen at the macula. We have observed two cases of Urbach-Wiethe disease in a 7-year-old girl and ll-year-old boy and confirmed by the histopathologic results.

Key Words: eyelid papules;hyaline deposit;skin;Urbach-Wiethe disease