Results 21 to 30 of about 131 (84)

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

Atypical intracranial calcifications in a conventional Radiographic exam [PDF]

, 2015
An 18-year-old male patient of consanguineous parents, delivered at full-term by cesarean section and having no changes in neurodevelopment, presented with skin blisters that evolved to eruptions and scars immediately after birth.
Duarte, Juliana Avila, Klaes, Amália Izaura N.M., Kruger, Marília Sfredo, Maciel, Antonio Carlos, Souza, Ana Claudia de, Tarasconi, Dorvaldo Paulo, Vedolin, Leonardo Modesti, Vilaverde, Andreia Wallau   +7 more
core   +7 more sources

Lipoid Proteinosis: A Previously Unrecognized Mutation and Therapeutic Response to Acitretin. [PDF]

, 2017
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Andrea Diociaiuti, Claudia Carnevale, Daniele Castiglia, Giovanna Zambruno, Maya El Hachem, Renata Boldrini, Simona Giancristoforo, Vittoria Proto   +7 more
core   +2 more sources

Lipoid proteinosis: A series of three cases

Indian Journal of Paediatric Dermatology, 2018
Lipoid proteinosis is a very rare progressive autosomal recessive disorder characterized by deposition of hyaline material in the skin, upper aerodigestive tract, and internal organs. Patients present with a history of repeated blistering, skin scarring,
Astha Sharma, Lalit Kumar Gupta, Manisha Balai, Ashok Kumar Khare   +3 more
doaj   +1 more source

Amygdalae and striatum calcification in lipoid proteinosis. [PDF]

AJNR Am J Neuroradiol, 2010
Gonçalves FG, de Melo MB, de L Matos V, Barra FR, Figueroa RE.   +4 more
europepmc   +2 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 rare genetic disorder encountered in dentistry: a case of lipoid proteinosis [PDF]

Lipoid proteinosis disease is a rare autosomal recessive genodermatosis first described by Urbach and Wiethe in 1929. This disease occurs as a result of homozygous or compound heterozygous mutations in the ECM1 gene located in the 1q21 chromosome region.
Dogan, Mehmet Sinan, Yavuz, Izzet, Yazmaci, Betul   +2 more
core   +2 more sources

A case report of lipoid proteinosis with brain and laryngeal presentation [PDF]

, 2020
Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis. Genetic mutation leads to deposition of abnormal amounts of hyaline like material in the skin and viscera, which is the cause of clinical manifestations.
Hemmati, S., Kazemi, M.A., Mazhin, Z.A., Moradi, B., Sharifian, H.   +4 more
core  

A rare case report of lipoid proteinosis with distichiasis and trichomegaly: An interesting entity

Clinical Dermatology Review
Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by infiltration of periodic acid schiff (PAS)-positive diastase-resistant hyaline material in the skin, oral cavity, and larynx caused by a mutation in the extracellular matrix ...
H Bangaru, Sathish Shankar, Nanjundaswamy Bisalavadi Lingaiah, S R Shivani, B Y Praveen, Tejaswini Acharya   +5 more
doaj   +1 more source