Moniliform blepharosis in lipoid proteinosis: A rare case

Abstract

Lipoid proteinosis (LP) is a rare multisystem disease characterized by the accumulation of amorphous hyaline-like materials in the skin, mucous membranes, and brain. The ocular finding is the presence of papular lesions on the eyelids, which is pathognomonic and is called moniliform blepharosis. Here, we present a 12-year-old case of LP, who could not be diagnosed despite the hoarseness of the voice and papillomatous lesions on the skin since the first year of her life and was diagnosed after ocular findings appeared.