A case of Gorlin syndrome like phenotype with multiple infundibulocystic basal cell carcinomas in a moniliform blepharosis arrangement [PDF]
JAAD Case Reports, 2023 David Petrosian
exaly +7 more sources
Urbach-Wiethe Syndrome and the Ophthalmologist: Review of the Literature and Introduction of the First Instance of Bilateral Uveitis [PDF]
Case Reports in Medicine, 2012 Patients suffering from Urbach-Wiethe syndrome (UWS), also known as lipoid proteinosis or hyalinosis cutis et mucosae, may have an ophthalmologist involved in the diagnosis and management of their disease.
Seyed-Mojtaba Abtahi +9 more
doaj +5 more sources
Moniliform blepharosis in lipoid proteinosis: A rare case
Indian Journal of Ophthalmology Case Reports, 2023 Lipoid proteinosis (LP) is a rare multisystem disease characterized by the accumulation of amorphous hyaline-like materials in the skin, mucous membranes, and brain.
Fatma Sema Akkan Aydoğmuş
exaly +4 more sources
Radiologic presentation of lipoid proteinosis with symmetrical medial temporal lobe calcifications [PDF]
Radiology Case Reports, 2015 Lipoid proteinosis is a rare, autosomal-recessive, genetic disorder characterized by multisystem involvement due to intracellular deposition of amorphous hyaline material. The disease is due to a mutation in the extracellular matrix of the protein 1 gene.
Subhashree Chandrasekaran, MD (RD) DNB (RD) +3 more
doaj +5 more sources
Moniliform blepharosis: A visual journey and review of literature
Indian Journal of Ophthalmology Case ReportsN Vidhya, T Zunaitha Fathima
exaly +4 more sources
Urbach–wiethe disease: Hyalinosis cutis et mucosae [PDF]
Oman Journal of Ophthalmology, 2021 Urbach-Wiethe Disease is an uncommon entity with autosomal recessive inheritance. We describe the clinical and histopathological findings of lipoid proteinosis in this clinical image.
Prabrisha Banerjee, Bipasha Mukherjee
doaj +2 more sources
Oral Manifestations and Dental Management Considerations of Lipoid Proteinosis: A Case Report and Review of Literature [PDF]
Journal of Dentistry, 2022 Lipoid proteinosis (LP) is a sporadic congenital metabolic disorder characterized by deposition of hyaline material in various organs. It has a very low prevalence rate of approximately 300 cases reported up to now.
Fatemeh Jahanimoghadam +1 more
doaj +2 more sources
Lipoid Proteinosis with Esotropia: Report of a Rare Case and Dermoscopic Findings [PDF]
Indian Journal of Dermatology, 2020 Lipoid proteinosis (LP) is a rare progressive autosomal recessive disorder caused by mutations in the extracellular matrix protein 1 gene present on chromosome 1q21.
Hera Tabassum +5 more
doaj +2 more sources
Lipoid proteinosis in a six-year-old child [PDF]
Indian Dermatology Online Journal, 2012 Lipoid proteinosis (LiP) (OMIM 247100) is a rare autosomal recessive disease caused by loss of function mutations in the extracellular matrix protein 1 gene, ECM1, on chromosome 1q21.
Surajit Nayak, Basanti Acharjya
doaj +2 more sources
Lipoid proteinosis: a rare encounter in dental office. [PDF]
Case Rep Dent, 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.
Deshpande P +5 more
europepmc +2 more sources