A case report of lipoid proteinosis from Ardabil

Lipoid proteinosis is a rare autosomal-recessive disturbances characterized by yellowish-white deposits on the inner surface of the lips, under surface of the tongue, fauces, uvula and uncommonly other surfaces of upper respiratory tract. Changes in larynx lead to degrees of hoarsness which usually appears within the first few weeks of life after initiation of the disease.The patient tongue is firm like as wood. In some patients deposits observed on the vocal cords, labia major, scrotum, gluteal folds and axilla. The eyelid margins contain yellowish pearly papules in about 2/3 of patients. Neurologic findings such as epilepsy are rare but pathognomonic. The gene of these disturbances is recognized on 1q21 choromosome. The patient reported here is a 13 years old girl with yellowish pearly papules on the margins of her eyelids and hoarsness. Diagnosis of lipoid proteinosis is confirmed by pathologic findings.