Results 31 to 40 of about 332 (125)

Teaching Neuro Images : Lipoid proteinosis (Urbach-Wiethe disease) [PDF]

Neurology, 2013
Lipoid proteinosis (LiP) results from a multisystem intracellular deposition of noncollagenous proteins and glycoproteins. This deposition appears to be related to the synthesis and metabolism of collagen and is a result of an autosomal recessive mutation with loss-of-function and reduced or absent expression of the extracellular matrix protein 1 gene (
Marcelo Bianco, Quirici, Antonio J, da Rocha   +1 more
openaire   +2 more sources

Intra-Familial Phenotypic Variability in Lipoid Proteinosis: A Case Series of Three Siblings

Clinical Medicine Insights: Case Reports
Lipoid proteinosis (LP), or Urbach-Wiethe disease, is an ultra-rare autosomal-recessive disorder caused by loss-of-function variants in the ECM1 gene. It is characterized by the progressive deposition of hyaline-like material in the skin, mucosae, and ...
Muhammad Murtaza MBBS, Insharah Zafar MBBS, Bareea Mubashar MBBS, Abedin Samadi MBBS, Ahmed Asad Raza MBBS   +4 more
doaj   +1 more source

[Lipoid proteinosis of Urbach-Wiethe: a case report].

Dermatology online journal, 2012
Lipoid proteinosis or Urbach-Wiethe disease is a rare autosomal recessive mucocutaneous disorder caused by mutation in the EMC1 gene. Hoarseness is observed in early childhood associated with infiltration and thickening of skin. Multiple systemic manifestations develop involving mucosal deposition of hyalin material.
Patrícia E C, Daldon, Marcela, Baraldi Moreira, Sabrina R, Talarico   +2 more
openaire   +1 more source

Lipoid Proteinosis (urbach-wiethe Disease).

Indian journal of dermatology, venereology and leprology
A case tf lipoid proteinosis is being reported because t)f its rare occurrence. A brief review of literature is given.
N K, Bansal, G K, Mathur
openaire   +1 more source

Lipoid proteinosis; a rare pathology, requiring multidisciplinary input. [PDF]

BMJ Case Rep, 2023
Fenech MT, Yeo D.
europepmc   +1 more source

Association Between Lipoid Proteinosis and Coeliac Disease. [PDF]

Dermatol Pract Concept, 2023
Bendaoud L, Bigjoine I, Hocar O, Amal S.
europepmc   +1 more source

Lipoid Proteinosis of Urbach and Wiethe [PDF]

, 2020
openaire   +1 more source

Assessment of dynamic thiol-disulfide homeostasis in patients with lipoid proteinosis (Urbach-Wiethe syndrome). [PDF]

Rev Assoc Med Bras (1992), 2022
Taskin S, Celik H, Taskin A, Aksoy M, An I, Yesilova Y.   +5 more
europepmc   +1 more source

Identification of a Novel Mutation of Extracellular Matrix Protein 1 Gene in a Chinese Family with Lipoid Proteinosis. [PDF]

Clin Cosmet Investig Dermatol, 2023
Xu M, Zhou J, Yan J, Wang J.
europepmc   +1 more source