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.

Urbach-weithe disease (lipoid protinosis): a case report

“…Beaded papules around the eyelid margins (moniliform blepharosis) are typically found in our patient which is a pathognomonic sign of lipoid proteinosis, similar lesions are also found in oral cavity [1,3]. The lips, tongue, soft palate, tonsils and pharynx are usually involved.…”

“…Dimethyl sulfoxide, oral retinoids, and dermabrasion have been shown to improves skin lesions. Surgical management such as microlaryngeal surgery of the vocal cords using CO 2 laser to reduce their thickness and hoarseness [1]. Acitretin in a couple of case reports shows a significant improvement in hoarseness of voice, while a very minimal to no improvement in cutaneous lesion [9,10].…”

“…Ступінь та характер пошкодження тазового кільця розцінюється як показник тяжкості травми [1][2][3][4][5]. Поняття стабільності таза визначає подальшу тактику, а використання класифікацій пошкоджень за M. Tile -AO/ASIF і Letournel -AO/ASIF допомагає вибрати найбільш раціональний спосіб лікування і прогнозувати функціональні результати пошкоджень кісток тазу і переломів вертлюгової западини у кон-кретних постраждалих [6,7].…”

“…Lipoid proteinosis (Urbach-Wiethe disease or Hyalinosis cutis et mucosae) is considered as a rare disorder, inherited as autosomal recessive pattern [1]. Lipoid proteinosis is caused by progressive hyaline material deposition in the skin, mucous membrane and different body organs [2].…”

Lipoid proteinosis: A case with distinct histopathological and radiological findings

“…Approximately 300 cases have been reported in the literature till date. 2 We hereby report this case due to the presence of unusual histopathological and brain imaging findings in a patient with lipoid proteinosis.…”