title: Lipoid proteinosis (Urbach-Wiethe disease) in two siblings.
abstract: Lipoid proteinosis is a very rare autosomal recessive disorder characterized by deposition of hyaline material in the skin and the upper aerodigestive tract. Hoarseness of voice occurs very early in life and airway obstruction may occur. Characteristic skin lesions include multiple brown atrophic scars over face and distal extremities, beaded papules over the margins of the eyelids and verrucous nodules over the friction bearing areas (elbows, knees). The overall prognosis is good. There is no definitive treatment.
authors.affiliation: Department of Pediatrics, Gujarat Medical Education and Research Society Medical College and Hospital, Dharpur, Patan, Gujarat, India.
authors.forename: Rekha
authors.initials: R
authors.lastname: Thaddanee
authors.affiliation: Department of Ear, Nose and Throat, Gujarat Medical Education and Research Society Medical College and Hospital, Dharpur, Patan, Gujarat, India.
authors.forename: Ajeet Kumar
authors.initials: AK
authors.lastname: Khilnani
authors.affiliation: Department of Dermatology, Gujarat Medical Education and Research Society Medical College and Hospital, Dharpur, Patan, Gujarat, India.
authors.forename: Purna
authors.initials: P
authors.lastname: Pandya
authors.affiliation: Department of Dentistry, Gujarat Medical Education and Research Society Medical College and Hospital, Dharpur, Patan, Gujarat, India.
authors.forename: Mayank
authors.initials: M
authors.lastname: Chaturvedi
keywords: Autosomal recessive disease; Urbach-Wiethe disease; hyalinosis cutis et mucosae; lipoid proteinosis