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Lipoid proteinosis (Urbach-Wiethe disease) in two siblings
Rekha Thaddanee1, Ajeet Kumar Khilnani2, Purna Pandya3
1Department of Pediatrics, Gujarat Medical Education and Research Society Medical College and Hospital, Dharpur, Patan, Gujarat, India.
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.
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