(Urbach-Wiethe disease)

Autosomal recessive transmission (chromosome 1q21). Deposition of hyaline material in the capillary walls and in the epithelial basement membrane produces a thickening of skin and mucous membranes, in general limited to the face. Hoarseness of the voice, enlarged and poorly mobile tongue. Stridor and shortness of breath are present if the larynx is involved (may be an indication of laser surgery).

Anesthetic implications:

difficult intubation.

References : 

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

Updated: January 2019