Lipoid proteinosis

Lipoid proteinosis is a rare hereditary disease that results in the deposition of lipids and collagen in the skin and mucous membranes.

Symptoms begin in early childhood with hoarseness and swelling of the lips and tongue. In addition, yellow nodules form in the oral cavity and on the skin. The nodules are about pinhead size and are characterized by their confluency to plate-like, coarse plates. Patients are often noted for their rigid facial expression with pronounced perioral and frontal furrowing.

Other symptoms include delays in nail and hair growth, which may be due to scarring alopecia. In addition, calcification in the brain can lead to disorders such as epilepsy.