Urbach-Wiethe disease (Lipoglycoproteinosis; Lipoid proteinosis; Hyalinosis cutis et mucosae)

Abstract

Urbach‐Wiethe disease (UWD) is mainly characterized by grossly visible lesions in the skin mouth, pharynx and larynx, consisting of deposits, histopathologically in some respects resembling amyloidotic tissue lesions. UWD was diagnosed in 27 patients belonging to 14 families (16 sibships) in northern Sweden. The findings in the present study are consistent with the hypothesis that the disease is inherited in an autosomal recessive manner. Carriers seem to be diffusely spread along the coast of northern Sweden. Possible effects (micro‐manifestations) of the UWD gene were found among some carriers of the gene.

Amygdala lesions do not compromise the cortical network for false-belief reasoning

“…Patient group. The patient group originally included three females (referred to herein as "AP," "AM," and "BG") who had focal bilateral amygdala lesions caused by Urbach-Wiethe disease (34). AP is an English-speaking American, was 27 y of age at testing, has worked since she obtained her Bachelor's degree, and is fully right-handed.…”

Lipoid proteinosis of Urbach and Weithe: case report and a brief review of the literature

“…Since then many cases have been reported mostly in the dermatology and otolaryngology literature [2]. The ocular manifestations, though trivial, are characteristic and aid in the diagnosis [3,4].…”

Lipoid proteinosis in the eastern Mediterranean region of Turkey

“…The laryngeal changes may rarely be a cause of life-threatening symptoms as respiratory insufficiency. [3,6,7] Skin lesions may appear during the first two years of life and occur in two stages. The first consists of pustules, bullae, and hemorrhagic crusts of the skin, mouth, and throat.…”

“…In addition to alopecia, dental anomalies and recurrent parotitis can occur. [2,7,8] All the patients were suffering hoarseness of voice and various types of skin lesions that include beaded eyelid papules, verrucous plaques on the knee and elbow, multiple depressed acneiform scars on the face and extremities. Moreover, in the past, an adult man was examined by otolaryngologist many times due to the hoarseness and its main cause had not been explained.…”