Eyelid Lesions in Lipoid Proteinosis or Urbach-Wiethe Disease: Case Report and Review of the Literature

Abstract

Lipoid proteinosis (LP) or Urbach-Wiethe disease is a recessively inherited disorder not usually seen by ophthalmologists. It is characterized by non-inflammatory, persistent papules on the skin and mucous membranes. The first clinical manifestation of LP is usually progressive hoarseness. The lid lesions, consisting of beaded papules along the lid margins (moniliform blepharosis), are considered almost pathognomonic of the disease. The interesting clinical and histopathological features of LP are described in a 45-year-old man with a history of lipoid proteinosis, who presented to us for evaluation of ocular discomfort and unusual multiple eyelid lesions. We surgically removed all the eyelid lesions. The histologic findings were consistent with LP. Knowledge of the typical eyelid lesions may help to diagnose many typical or atypical cases of LP, although biopsy confirmation is always necessary. In our experience, the surgical removal of the eyelid lesions seems to be curative and due to the amount of eyelid lesions that can be developed, it is recommended to initiate an early treatment as soon as possible to avoid postoperative deformities.

A Novel Association of the Additional Intracranial Calcification in Lipoid Proteinosis: A Case Report

“…Very few cases have been reported from Asia and most of the cases have been seen in South Africa and Central Europe [3,8]. Such is the rarity of the disease that till date, not more than 500 cases have been reported worldwide.…”

Lipoid proteinosis: pathognomonic clinical and radiological features

“…This is considered a pathognomonic dermatological finding of lipoid protenosis (figure 1). 1 As the diagnosis of lipoid proteinosis was being entertained, radiological confirmation was sought with a CT brain study.…”

Cutaneous Deposits

“…Beaded papules on the palpebral margins (moniliform blepharosis) are a characteristic finding. 191 The disease runs a stable or slowly progressive course and is compatible with a normal life expectancy. 192 Histopathology shows a progressive deposition of pale, eosinophilic, hyaline material in the walls of small blood vessels, periphery of eccrine sweat glands, and lying freely in the papillary dermis.…”