title: Lipoid proteinosis: A rare entity.
abstract: Urbach-Wiethe syndrome or lipoid proteinosis is a rare autosomal recessive disorder characterized histologically by infiltration of Periodic acid Schiff-positive hyaline material in the skin, upper aerodigestive tract, eyelids, and internal organs. Classical clinical features include scarring of the skin, beaded eyelid papules (moniliform blepharosis) and laryngeal infiltration leading to hoarseness of voice. Lipoid proteinosis can lead to life-threatening conditions such as acute respiratory distress and seizures. Awareness among ophthalmologists about this rare entity is crucial for appropriate management of these patients.
authors.forename: Bipasha
authors.initials: B
authors.lastname: Mukherjee
authors.affiliation: Department of Orbit, Oculoplasty, Reconstructive and Aesthetics, Sankara Nethralaya, Medical Research Foundation, Chennai, Tamil Nadu, India.
authors.forename: Pratheeba N
authors.initials: PN
authors.lastname: Devi
mesh_terms: D000328:Adult; D001706:Biopsy; D003937:Diagnosis, Differential; D005141:Eyelid Diseases / Q000175:diagnosis*; D005143:Eyelids / Q000473:pathology*; D006801:Humans; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000175:diagnosis*; D008297:Male; D035583:Rare Diseases; D014057:Tomography, X-Ray Computed