(Urbach-Wiethe disease, sometimes also called Urban-Wiethe)

Autosomal recessive transmission of a mutation of the ECM1 gene (1q21).

Deposits of hyaline material in capillary walls and epithelial basement membranes, resulting in thickening of the dermis and mucous membranes, usually confined to the face. Hoarseness of voice, enlarged tongue with limited mobility. Stridor and breathing difficulties if the larynx is affected (may be an indication for laser surgery).

Dental hypoplasia is sometimes present.

Bilateral brain lesions may also be present: calcification of the basal ganglia, hardening of brain tissue in the medial temporal lobes, which may lead to epilepsy, neuropsychiatric abnormalities or cerebral hemorrhage.

Anesthetic implications:

risk of difficult intubation.

References : 

-        Kelly JE, Simpson MT, Jonathan D, Hollway TE.
Lipoid proteinosis : Urbach-Wiethe disease.
Br J Anaesth 1989; 63: 609-11.

-        Parida JR, Misra DP, Agarwal V.
Urbach-Wiethe syndrome.
BMJ Case Rep 2015. doi:10.1136/bcr-2015-212443

Updated: June 2024