title: Lipoid Proteinosis: a case report in two siblings.
abstract: Lipoid proteinosis was first reported by Urbach and Wiethe in 1929. It is also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease. It is a rare autosomal recessive disorder and characterized by the infiltration of hyaline material in the skin, oral cavity, larynx, and internal organs. Lipid proteinosis presents early in life. Hoarseness develops in infancy. The classic sign is beaded eyelid papules along the lid margin, also known as 'Monilform Blepherosis'. In India about 30 cases have been reported to date. We report the following case because of its rarity in the Indian literature.
authors.forename: Rashmi
authors.initials: R
authors.lastname: Ranjan
authors.forename: Khushbu
authors.initials: K
authors.lastname: Goel
authors.affiliation: Maulana Azad Medical College and Lok Nayak Hospital.
authors.forename: Rashmi
authors.initials: R
authors.lastname: Sarkar
authors.forename: Vijay Kumar
authors.initials: VK
authors.lastname: Garg
mesh_terms: D000293:Adolescent; D005143:Eyelids / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D006229:Hand Dermatoses / Q000473:pathology; D006801:Humans; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000235:genetics / Q000473:pathology*; D009055:Mouth / Q000473:pathology; D009333:Neck / Q000473:pathology; D035781:Siblings