Eye involvement in lipoid proteinosis: A rare clinically forgotten entity

Author:

Arora Raisa1,Kohli Vandana1,Kumar Vikas1

Affiliation:

1. Department of Ophthalmology, Employee’s State Institute and Post Graduate Institute of Medical Sciences and Research, Basaidarapur, Delhi, India,

Abstract

Lipoid proteinosis (LP), also known as Urbach-Wiethe disease, is a rare autosomal recessive genodermatosis having multisystem syndromic involvement of skin, upper aerodigestive tract, internal organs, and eyelids. Although the ocular manifestations are rare, it is important to identify these clinical entities for early diagnosis and improved outcomes. We, hereby, describe a case of a 17-year-old female who presented with complaints of chronic itching and discomfort of both eyelids on and off.

Publisher

Scientific Scholar

Reference5 articles.

1. Urbach-Wiethe disease (lipoglycoproteinosis; lipoid proteinosis; hyalinosis cutis et mucosae). A review;Hofer;Acta Derm Venereol Suppl (Stockh),1973

2. Lipoid proteinosis of the larynx: A cause of voice change in the infant and young child;Savage;Int J Pediatr Otorhinolaryngol,1988

3. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1);Hamada;Hum Mol Genet,2002

4. Lipoid proteinosis: Clinical, histologic, and ultrastructural investigations;Muda;Cutis,1995

5. Oral, pharyngeal and laryngeal manifestations in Urbach-Wiethe disease;Bergenholtz;Ann Clin Res,1977

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