Results 21 to 30 of about 400 (148)
Verrucous papules and plaques in a middle‐aged man
, 2023 International Journal of Dermatology, Volume 62, Issue 10, Page 1215-1217, October 2023.
Ruan S. de Jager +2 more
wiley +1 more source
Lipoid Proteinosis (Urbach-Wiethe Disease): A Rare Genodermatosis with Characteristic Dermatological and Neuroimaging Findings. [PDF]
Ann Indian Acad Neurol, 2021 Chatterjee A +3 more
europepmc +4 more sources
Genetic Disorders of the Extracellular Matrix
The Anatomical Record, Volume 303, Issue 6, Page 1527-1542, June 2020., 2020 ABSTRACT Mutations in the genes for extracellular matrix (ECM) components cause a wide range of genetic connective tissues disorders throughout the body. The elucidation of mutations and their correlation with pathology has been instrumental in understanding the roles of many ECM components. The pathological consequences of ECM protein mutations depend
Shireen R. Lamandé, John F. Bateman
wiley +1 more source
LIPOID PROTEINOSIS: URBACH-WIETHE DISEASE
British Journal of Anaesthesia, 1989 An otherwise healthy patient with Urbach-Wiethe disease required surgical removal of two 3rd molar teeth. In this multisystem disorder infiltration of the buccal, pharyngeal and laryngeal mucosa may cause difficulties with tracheal intubation and increase the likelihood of trauma. The anaesthetic implications and management are described.
J E, Kelly +3 more
openaire +2 more sources
Lipoid Proteinosis: a case report in two siblings [PDF]
, 2015 Lipoid proteinosis was first reported by Urbach and Wiethe in 1929. It is also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease. It is a rare autosomal recessive disorder and characterized by the infiltration of hyaline material in the skin,
garg, vijay kumar +3 more
core +1 more source
Psychiatric manifestations of lipoid proteinosis with temporal lobe involvement: A case report [PDF]
Eur PsychiatryIntroduction Lipoid proteinosis (Urbach-Wiethe disease) is a rare autosomal recessive disorder caused by ECM1 mutations.
Baki H.
europepmc +2 more sources
Dreaming in Urbach-Wiethe patients the effect of amygdala damage on dreaming [PDF]
, 2012 Includes bibliographical references.As it stands, there is a paucity of literature looking at the effect of damaged amygdalae on dreaming and dream content.
Koopowitz, Sheri
core +1 more source
Lipoid Proteinosis: A Rare Encounter in Dental Office
Case Reports in Dentistry, Volume 2015, Issue 1, 2015., 2015 Lipoid proteinosis is a sporadic congenital metabolic disorder which is characterized by deposition of hyaline material in dermis, submucosal connective tissue, and various internal organs. It has an extremely low prevalence rate with less than 300 cases reported so far.
Prasannasrinivas Deshpande +6 more
wiley +1 more source
Epilepsy and migraine in a patient with Urbach–Wiethe disease [PDF]
, 2007 SummaryWe report the clinical, neuroradiological, and molecular genetic findings in a patient with lipoid proteinosis or Urbach–Wiethe disease. Interestingly, in this patient epilepsy and migraine were the symptoms leading to the diagnosis of the disease,
Van Marck, Eric A. +12 more
core +1 more source
FEBS Open Bio, Volume 4, Issue 1, Page 879-885, January 01, 2014., 2014 Extracellular matrix protein 1 (ECM1) is expressed in a wide variety of tissues and plays important roles in extracellular matrix formation. Additionally, ECM1 gene mutations cause lipoid proteinosis (LP), a rare skin condition of genetic origin. However, an effective therapeutic approach of LP is not established.
Shiho Uematsu +5 more
wiley +1 more source