Urbach–Wiethe disease

Summary 

Objective: Urbach–Wiethe disease (lipoid proteinosis) is a rare, recessively inherited disorder, characterized by infiltration of a hyalin-like material in skin, mucous membranes, brain and other internal organs. We present a case of a child with this rare disease. Case report: A 15-year-old boy was referred to our clinic because of a 10-year history of hoarseness. On clinical examination, waxy papules were seen on the face. The cutaneous lesions appeared early in childhood soon after the development of hoarseness and were located along the margin of both eyelids and on the upper lip on a beaded arrangement. Hyperkeratotic plaques were also found on the elbows and white–yellow infiltrates on the mucosae of the pharynx and the tongue. Full laboratory investigation was unremarkable. A biopsy from oral mucosae confirmed the diagnosis of lipoid proteinosis. Conclusion: Lipoid proteinosis is thought to be a multisystemic disorder due to deposition of hyaline material around the blood vessels in internal organs. Usual manifestations of the disease include recurrent parotitis related to the occlusion of the salivary duct, epilepsy owed to intracranial suprasellar calcification, malfunction of the eyelashes causing corneal ulceration or alopecia of the eyelashes and eyebrows. The most serious manifestation of lipoid proteinosis is the possible respiratory obstruction in infancy because of the enlargement of the tongue and the presence of hyaline infiltrates in pharynx. Otherwise, the disease is compatible with a normal life span. The disfiguring lesions and the permanent hoarseness can seriously impair quality of life. There is no effective therapy at the present time.

Keywords: Urbach–Wiethe disease, Lipoid proteinosis, Hoarseness