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, DO +3 more
doaj +8 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 +6 more sources
Lipoid proteinosis: A rare entity
Indian Journal of Ophthalmology, 2015 Urbach–Wiethe syndrome or lipoid proteinosis is a rare autosomal recessive disorder characterized histologically by infiltration of Periodic acid Schiff-positive hyaline material in the skin, upper aerodigestive tract, eyelids, and internal organs ...
Bipasha Mukherjee, Pratheeba N Devi
doaj +7 more sources
Ocular manifestations in lipoid proteinosis: A rare clinical entity
Indian Journal of Ophthalmology, 2015 Lipoid proteinosis is a rare autosomal recessive genodermatosis with abnormal lipid protein complexes deposition in different parts of the body, especially in the skin and mucus membranes of the upper aerodigestive tract.
Sumana J Kamath +2 more
doaj +7 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 +6 more sources
Moniliform blepharosis in lipoid proteinosis with a homozygous ECM1 gene mutation
Ophthalmic Genetics, 2018 WOS: 000436582700022PubMed ID ...
Akalin, Taner +5 more
core +7 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
Urbach–wiethe disease: Hyalinosis cutis et mucosae
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
Przegląd Dermatologiczny, 2023 Lipoid proteinosis is a rare autosomal recessive genodermatosis characterized by the deposition of hyaline material in the skin and internal organs. Skin involvement is in the form of blisters in infancy healing with pock-like scars, yellow waxy papules,
Kritika Gupta +5 more
doaj +2 more sources
Lipoid Proteinosis with Esotropia: Report of a Rare Case and Dermoscopic Findings
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