Understanding Lipoid Proteinosis: A Brief Overview

Lipoid proteinosis is a rare autosomal recessive deposition disorder resulting from a loss-of-function mutation of ECM1 on chromosome 1q21. It is characterized by the deposition of hyaline-like material within multiple organs, including the skin, oral mucosa, larynx, and brain. Clinically, the first sign is often a weak cry or hoarseness of voice due to the infiltration of the laryngeal mucosa; hoarseness remains throughout life. Cutaneous lesions occur in two stages, which may be overlapping; the first stage consists of vesicles and hemorrhagic crust on the skin of the face and extremities, which resolves with pock-like scarring. In the second stage, the skin becomes diffusely thickened and waxy yellow. The classical clinical feature is beaded papules linearly arranged over the eyelid margin, known as Moniliform blepharosis. Involvement of the tongue, oropharynx, recurrent parotitis, dental anomalies, and neurological manifestations are other findings. A pathognomonic radiographic finding is bilateral intracranial sickle-shaped calcification in the amygdala. Pink hyaline deposits are found in the dermis in skin biopsy. Lipoid proteinosis is a chronic cutaneous disease with a benign course.