Lipoid proteinosis: A series of three cases

Abstract

Lipoid proteinosis is a very rare progressive autosomal recessive disorder characterized by deposition of hyaline material in the skin, upper aerodigestive tract, and internal organs. Patients present with a history of repeated blistering, skin scarring, beaded eyelid papules, waxy papules over the body, and laryngeal and tongue infiltration leading to hoarseness of voice. This disorder is caused by mutations in the extracellular protein 1 gene present on chromosome 1q21. We report three cases of lipoid proteinosis, who presented to our outpatient department with aforementioned features.

Keywords

• Lipoid proteinosis
• moniliform blepharosis
• pock scars
• Urbach-Wiethe disease