Abstract: Lipoid proteinosis (LP), also known as Urbach-Wiethe disease, is a rare autosomal recessive hereditary disorder characterized by abnormal deposition of hyaline substances in the mucous membranes, skin, central nervous system and other bodily organs. A case of this disease is reported herein. The patient was a 9-year-old boy presenting with a 9-year history of hoarseness and a 1-year history of beaded papules on both eyelids. Dermatological physical examination revealed dense, beaded translucent papules on bilateral eyelids; brown hyperpigmented macules and atrophic scars on the extensor sides of both elbows, forehead and back; skin-colored papules on bilateral lateral fingers. Yellowish-white plaques were observed on the tongue, oral mucosa and hard palate, accompanied by tongue hypertrophy and abnormal dental development. Histopathological examination demonstrated amorphous substance deposition within the dermis.The diagnosis of lipoid proteinosis was made. Genetic testing was not performed in this case.

Key words: lipoid proteinosis