Abstract
Lipoid proteinosis is a very rare, recessively inherited disorder characterized by non-inflamatory persistent papules on the skin and mucous membranes.The pathogenesis of the disease in not yet clear. It usually presents in infancy with hoarseness. Therapy is mainly symptomatic.
A 26-year old man born to consanguineous parents with lipoid proteinosis characterized by the deposition of hyaline-like material into the skin, mucous membranes and internal organs. This disorder is particularly interesting because of its rarity and wide range of clinical manifestations.The main signs of syndrome-papulondular, hyperkeratotic and verrucous lesions distributed over the skin, pock-like scars of the face, beaded papules on the palpebral margins, tongue firmness with short frenulum, wide spread popular lesions of the oral cavity, hoarseness, dysphagia and epileptic seizares were present. Neotigason 50 mg/day was effective in reducing skin ulceration and dysphagia.