An 8-year-old Italian boy, born to consanguineous parents, with clinical, histopathologic, and ultrastructural findings of lipoid proteinosis is reported. The main signs of the syndrome-papulonodular, hyperkeratotic and verrucous lesions distributed over the skin of the head and extremities, hoarseness, and dysphagia-were present in the child. The mother had papulonodular lesions on her hands and also complained of slowness in healing.