Lipoid proteinosis (Urbach-Wiethe's disease/hyalinosis cutis et mucosae) is a rare autosomal recessive disease. The characteristic pathology which is responsible for the clinical findings of the disease is the deposition of periodic acid-Schiff (PAS) positive hyaline, amorphous material in the extracellular and perivascular spaces of skin, mucous membranes and organs. Skin involvement consisting of the small-beaded papules along the eyelid and lip margins is the dominant clinical finding in most cases. However larynx, pharynx and other visceral organs may also be affected.

We present here the light and electron microscopic findings of cord vocal biopsy from a 17 year-old female patient with the complaint of hoarseness.

Although more than 200 cases were published in the literature, lipoid proteinosis is still a very rare entity. The late appearance of the clinical symptoms of our patient is not typical and therefore clinical and pathological misdiagnoses are possible.