Abstract:
Lipoid proteinosis (Urbach-Wiethe disease, hyalinosis cutis et
mucosae) is an autosomal-recessive condition with variable
penetrance. It is characterised by distinctive skin and
mucous membrane lesions, particularly on the eyelids, on the
extensor surface of large joints and in the mouth. Laryngeal
involvement is typical and causes hoarseness due to lesions on
and around the vocal cords and occurs in 75% of patients with
the condition. Patients are normally hoarse from infancy, and
a chronic and benign course is usual.
