Abstract
Purpose: :
To show the clinicopathological correlation between two brothers with lipoid proteinosis over time.
Methods: :
Clinical histories and examinations were compared and correlated to biopsy specimens taken over a period of sixteen years and analyzed by light and electron microscopy.
Results: :
An eighteen-year-old man presented with bilateral eyelid lesions since early childhood of unknown etiology. Past medical history included dysphonia, parotiits, and extensive dermatologic complaints. Slit lamp exam revealed discrete, confluent, waxy nodular lesions extending from the lashes to the mucocutaneous junction of all four lid margins. Dermatological examination showed extensive infiltrative papules and plaques, pock-like atrophic scars, finger nail clubbing, pearly nodules along the cuticular margins and thickening of the tongue. The patient had previously undergone extensive dermatologic work-ups and previous skin biopsies were performed at ages 2 and 6. His sixteen-year-old brother had similar, though less severe, findings. A diagnosis of lipoid proteinosis was first suggested only at the ophthalmological examination at age 18.Excisional biopsy specimens of the eyelid lesions revealed features of lipoid proteinosis by both light and electron microscopy. Previous skin biopsies at ages 2 and 6 disclosed early manifestations of these features, but were deemed non-specific at the time. In retrospect, these early onset microscopic findings became progressively more substantial as the patient grew older.
Conclusions: :
We present two cases of a very rare systemic disease. Despite previous dermatological evaluations including biopsies, the patients were not correctly diagnosed until they saw an ophthalmologist for their eyelid lesions. The temporal nature of the biopsies suggest that lipoid proteinosis is a progressive disease that evolves over time. Most ophthalmologists are not aware of lipoid proteinosis since there is a paucity of information in the ophthalmic literature. Ophthalmologists have the unique opportunity to diagnose this potentially fatal and cosmetically damaging condition by recognizing and biopsying the classic eyelid lesions.
Keywords: pathology: experimental • eyelid • pathology: human