Lipoid proteinosis: a rare encounter in dental office

Abstract

Lipoid proteinosis is a sporadic congenital metabolic disorder which is characterized by deposition of hyaline material in dermis, submucosal connective tissue, and various internal organs. It has an extremely low prevalence rate with less than 300 cases reported so far. This progressive disease has a vast spectrum of manifestations ranging from asymptomatic lesions to fatal seizures and respiratory obstruction making timely diagnosis of this rare disorder an imperative task for oral health care practitioners. We report a case of characteristic oral manifestations of lipoid proteinosis in a 28-year-old male patient along with a review of relevant prevailing literature.

Figure 1

Waxy beaded papules on the margins of the eyelids.

Figure 2

Macroglossia with crenations along the margins and loss of papillae on dorsum surface of the tongue.

Figure 3

Sublingual frenum was stiff.

Figure 4

Diffuse yellowish waxy papular lesions were noted throughout the oral mucosa.

Figure 5

Hematoxylin and eosin stained sections (40x) revealed stratified squamous parakeratinized hyperplastic epithelium with presence of fibers, fibroblasts, blood vessels, and numerous eosinophilic amorphous aggregates in the connective tissue.

Figure 6

Congo red staining was negative.

Figure 7

PAS staining showed positive results.