A rare genetic disorder encountered in dentistry: a case of lipoid proteinosis

Lipoid proteinosis disease is a rare autosomal recessive genodermatosis first described by Urbach and Wiethe in 1929. This disease occurs as a result of homozygous or compound heterozygous mutations in the ECM1 gene located in the 1q21 chromosome region. Approximately 400 cases have been encountered in the literature to date. Although it is seen worldwide, a higher prevalence of has been observed in Europe and South Africa. Although this disease can be seen anywhere in the body, the upper respiratory tract and mouth are affected in the majority of patients. The first clinical sign in Lipoid Proteinosis patients is a weak and muffled cry caused by laryngeal infiltration that develops shortly after birth or during infancy. Skin and mucosal changes develop during the first few years of life and later. Intraoral symptoms include macroglossia due to infiltration of waxy yellowish-white plaques and nodules, fissured macrocheilia, and nodular thickened mucosa. The prognosis of Lipoid Proteinosis disease is good and there is no specific treatment. Dentists are in the earliest position to diagnose Lipoid Proteinosis and help provide appropriate treatment to improve the quality of life impaired by the disease.