Lipoid Proteinosis is a rare autosomal recessive disease characterized by abnormal accumulation of amorphous hyaline material in various tissues of the body including the skin, larynx, oral cavity, internal organs and central nervous system. This disease is more common in regions where consanguineous marriages are common. Lipoid proteinosis is caused by mutations in the extracellular matrix protein 1 (ECM1) gene located on chromosome 1q21. Its histopathological feature is the deposition of pale, eosinophilic, PAS (+), hyaline-looking material in the papillary dermis, dermoepidermal junction, around dermal blood vessels and skin appendages, mucosa and internal organs. One of the first findings of the disease begins with dysphonia due to the involvement of the vocal cords in early childhood. The skin is easily damaged by minor trauma or injury and permanent scars are formed. White or yellow infiltrates develop on the lips, oral mucosa, tonsils, uvula, epiglottis and frenulum of the tongue. In this case report, systemic and oral manifestations of Lipoid Proteinosis disease were examined and the clinical findings and dental treatments of a 12-year-old male patient were evaluated.
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