title: Lipoid proteinosis (Urbach-Wiethe disease): a case report from India.
abstract: Lipoid proteinosis (Urbach-Wiethe disease) is a rare autosomal-recessive anomaly that primarily affects the skin and the mucosa of the upper aerodigestive tract in children. It is caused by hyaline deposits in tissues. Hoarseness secondary to laryngeal involvement is frequently the first presenting feature. It is important to consider this disease in the differential diagnosis of hoarseness because it might lead to life-threatening airway compromise. We report a case of lipoid proteinosis in a 12-year-old girl who presented with hoarseness and skin lesions.
authors.affiliation: Department of Ear Nose and Throat-Head and Neck Surgery, Vardhman Mahaveer Medical College and Safdarjung Hospital, New Delhi, India. kadambaribatra@gmail.com
authors.forename: Kadambari
authors.initials: K
authors.lastname: Batra
authors.forename: Anil
authors.initials: A
authors.lastname: Safaya
authors.forename: Kiran
authors.initials: K
authors.lastname: Aggarwal
mesh_terms: D001707:Biopsy, Needle; D002648:Child; D005260:Female; D005336:Fiber Optic Technology; D005500:Follow-Up Studies; D006685:Hoarseness / Q000175:diagnosis / Q000209:etiology; D006801:Humans; D007150:Immunohistochemistry; D007194:India; D007818:Laryngeal Diseases / Q000175:diagnosis* / Q000601:surgery*; D007828:Laryngoscopy / Q000379:methods; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000175:diagnosis* / Q000601:surgery*; D009061:Mouth Mucosa / Q000473:pathology; D018570:Risk Assessment; D012720:Severity of Illness Index; D016896:Treatment Outcome