Haydarpasa Numune Med J. 2025; 65(3): 289-292 | DOI: 10.14744/hnhj.2025.76735

Lipoid Proteinosis: A Case Report

Deniz Ilgýn Çelik, Sevim Baysak, Þirin Yaþar
Department of Dermatology, University of Health Sciences Türkiye, Haydarpasa Numune Training and Research Hospital, Istanbul, Türkiye

Lipoid proteinosis (LP), also referred to as Urbach-Wiethe disease or hyalinosis cutis et mucosae, is a rare autosomal recessive storage disorder. It is characterized by the deposition of amorphous hyaline material in the mucous membranes, skin, brain, and internal organs. The symptoms of lipoid proteinosis are variable but typically begin with hoarseness in the newborn period. Skin-related symptoms usually appear during childhood and include acneiform scars, wart-like papules, and plaques. The clinical presentation of this condition varies between individuals, which can make diagnosis difficult and often requires a detailed dermatological examination.

Keywords: Acneiform scars, hoarseness of voice, hyaline material, temporal calcifications, yellowish papules.

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