Results 91 to 100 of about 979 (113)

Lipoid proteinosis of the larynx in siblings: exploring new modalities of treatment. [PDF]

Indian J Otolaryngol Head Neck Surg, 2009
Srivalli M, Qaiyum HA, Moorthy PN.
europepmc   +1 more source

Urbach-Weithe disease (lipoid proteinosis): A classical presentation.

Indian Dermatol Online J, 2016
Sangwan A, Kaur S, Jain VK, Dayal S.
europepmc   +1 more source

Lipoid proteinosis: A review with two case reports.

Contemp Clin Dent, 2015
Kabre V, Rani S, Pai KM, Kamra S.
europepmc   +1 more source

Moniliform blepharosis in lipoid proteinosis with a homozygous ECM1 gene mutation

Ophthalmic Genetics, 2018
Lipoid proteinosis - autosomal recessive multisystem disorder -was first described in 1929 by Urbach (dermatologist), and Wiethe (ear, nose, and throat specialist).
Onur Furundaoturan, Hüseyin Onay, Melis Palamar   +2 more
exaly   +5 more sources

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Moniliform Blepharosis in Lipoid Proteinosis

Indian Journal of Postgraduate Dermatology
Pankaj Das, Anuj Bhatnagar, Lekshmi Priya Krishnan, Binu Kunwar, Sampoorna Raj Choudhary   +4 more
exaly   +2 more sources

Moniliform blepharosis: a pathognomonic feature of lipoid proteinosis

Eye
Usha Kim, Vedant Sharma
exaly   +3 more sources

Beads and Beyond: Dermoscopy of Moniliform Blepharosis.

Journal of Cutaneous Medicine and Surgery
Priyansh Gupta
exaly   +2 more sources

Familial Moniliform Blepharosis: Clinical, Histopathological and Genetic Correlation

Ophthalmic Genetics, 2013
Moniliform blepharosis is an ocular diagnostic feature of lipoid proteinosis, a rare autosomal recessive multisystem disorder with dermatological, otorhinolaryngological, ocular and neurological manifestations. Loss of function mutations in the extracellular matrix protein 1 (ECM1) gene have been identified as the causative factor, and their ...
Pratyush, Ranjan, Deepak, Mishra, Thomas, Plesec, Vir B, Pratap, Arun D, Singh   +4 more
openaire   +2 more sources