Results 11 to 20 of about 979 (113)

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   +3 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, HimaBindu Marthala, BinduMadhavi Manapragada   +2 more
doaj   +3 more sources

Lipoid proteinosis coexisting with rare psychiatric manifestations: a case report with a review of literature

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, Hania Khan, Syed Amin, Iti Varshney, Saifullah Khalid, Murad Ahmed   +5 more
doaj   +2 more sources

Moniliform blepharosis: A characteristic sign of lipoid proteinosis

Indian Journal of Dermatology, Venereology and Leprology, 2021
Anupam Das
exaly   +4 more sources

What's in a Voice? Deciphering Clue in a Case of Facial Varioliform Scars in a Young Girl [PDF]

Dermatology Practical & Conceptual
Srishti Dabas, Tanvi Dev, Vaishnavi Modi, Yankila Tamang, Ditixa Patel, Nikhil Arora   +5 more
doaj   +2 more sources

Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab families

Pediatric Dermatology, Volume 40, Issue 1, Page 113-119, January/February 2023., 2023
Abstract Background/objectives Lipoid proteinosis (LP) is a rare autosomal recessive multisystem disorder that is caused by loss‐of‐function pathogenic variants in the extracellular matrix protein‐1 (ECM1) gene. The typical clinical manifestations of LP include hoarseness of voice, beaded papules on the eyelids, infiltration and scarring of the skin ...
Mingfeng Li, Judith Fischer, Sylvia Safwat, Walaa Shoman, Yasmine El Chazli, Svenja Alter, Cristina Has, Ebtesam Abdalla   +7 more
wiley   +1 more source

Successful use of acitretin in an indian child with lipoid proteinosis

Indian Journal of Paediatric Dermatology, 2022
Introduction: Lipoid proteinosis is a rare autosomal recessive disease, characterized by deposition of Periodic Acid‒Schiff-positive hyaline material in the skin, mucous membrane of the upper aerodigestive tract, and different organs of the body ...
Shraddha P Kote, Apoorva Dhananjay Chopkar, Bhagyashree Babanrao Supekar, Jayesh Ishwardas Mukhi   +3 more
doaj   +1 more source

Linked collectors and determiners for: A new Blepharosis species from China (Lepidoptera, Noctuidae).

Natural history specimen data linked to collectors and determiners held within, "A new Blepharosis species from China (Lepidoptera, Noctuidae)". Claims or attributions were made on Bionomia by volunteer Scribes, <a href="http://bionomia.net/dataset ...
Bionomia
core   +3 more sources

Lipoid Proteinosis Beyond the Skin: Unmasking its Oral Presentation

Journal of Multidisciplinary Dental Research
Lipoid proteinosis (LP) is a rare congenital disorder marked by hyaline material accumulation in various organs, with only about 400 cases reported.
Abrielle K Lamphere
doaj   +1 more source

A new Blepharosis species from China (Lepidoptera, Noctuidae)

, 2019
Gyulai, Peter, Saldaitis, Aidas, Truuverk, Andro, Vaitonis, Gintas (2019): A new Blepharosis species from China (Lepidoptera, Noctuidae).
PETER GYULAI, Saldaitis, Aidas, AIDAS SALDAITIS, ANDRO TRUUVERK, Gyulai, Peter, GINTAS VAITONIS, Vaitonis, Gintas, Truuverk, Andro   +7 more
core   +1 more source