Radiological finding in lipoid proteinosis

Urbach-Wiethe Disease(Lipoid Proteinosis)

“…It affects predominantly the skin of the face and the mucous membranes of the upper aerodigestive system (the 'muzzle') and the central nervous system that subserves this region [3,4].…”

“…Many patients are hoarse or aphonic (and unable to cry) at birth, or become so early in infancy [4][5][6][7][8][9][10]. Cord stiffness restricts motion with incomplete abduction during inspiration (33%) and incomplete adduction during phonation (33%) [4].…”

“…Cord stiffness restricts motion with incomplete abduction during inspiration (33%) and incomplete adduction during phonation (33%) [4]. Nearly all oral tissues become infiltrated with white, ulcerated, pea-sized plaques that most frequently appear before puberty and gradually increase in severity [11].…”

Lipoid Proteinosis: Urbach-Wiethe Disease

“…Progressive narrowing of the respiratory tract and development of an immobile "woody" tongue in severe cases may predispose to dysphagia, problems with gustation and mouth opening [3,6]. Stridor and dyspnoea have not been reported recently, but in 1943 Ramos e Silva reported a case of asphyxia which required prompt tracheotomy [7].…”

“…The infiltration of the soft tissues of the tongue and larynx may cause difficulties with direct laryngoscopy and it would be advisable, especially in those with severe disease, to be prepared to use a flexible fibreoptic laryngoscope to visualize the larynx and secure intubation. A reduced gag reflex may occur with this condition [6] and thus care should be taken to avoid aspiration in the postoperative phase by careful attention to pharyngeal toilet and position.…”