Results 11 to 20 of about 77,152 (265)
Bilateral Congenital Upper Eyelid Eversion in Neonates with Lamellar Ichthyosis
TNOA Journal of Ophthalmic Science and ResearchBackground: Bilateral congenital upper eyelid eversion is a rare but visually alarming condition that presents at birth and is often associated with systemic disorders such as lamellar ichthyosis.
Sangameshwarayya B. Salimath +2 more
doaj +3 more sources
Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population. [PDF]
Int Ophthalmol, 2023 To describe the ocular clinical characteristics of a group of Mexican patients with lamellar ichthyosis (LI) arising from TGM1 pathogenic variants. Ophthalmological exploration, pedigree analysis and genetic screening were performed in patients with an ...
Macriz-Romero N +6 more
europepmc +4 more sources
Genetics of lamellar ichthyosis
Egyptian Journal of Dermatology and VenereologyIchthyosis is a dermatological condition that causes the skin in a wide range of integumentary regions of the body to become dry, rough, and scaly. Ichthyosis affect 5–10/100 000 people worldwide. Lamellar ichthyosis (LI) is part of autosomal recessive congenital ichthyosis and is a significant type of inherited ichthyosis in no-syndromic form ...
Ziske Maritska +7 more
semanticscholar +3 more sources
Indian Journal of Paediatric DermatologyLamellar ichthyosis, a severe form of congenital ichthyosis, is often complicated by ectropion that, if unmanaged, can result in permanent vision loss. We report a 5-month-old infant of lamellar ichthyosis with bilateral grade III ectropion treated with ...
Shreshthangsha Sayan Biswas +2 more
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LAMELLAR ICHTHYOSIS: ONE CASE REPORT
International Journal of Medical Reviews and Case Reports, 2019 Introduction: Ichthyosis is a heterogeneous group of skin disease characterized by generalized scaling. Lamellar ichthyosis is an autosomal recessive disorder with a mutation in the TGM 1 gene encodes the transglutaminase I protein was found. The scales reflect changes in epidermal differentiation.
Farida Tabri
openaire +2 more sources
Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis [PDF]
, 2011 Zebrafish (Danio rerio) can serve as a model system to study heritable skin diseases. The skin is rapidly developed during the first 5-6 days of embryonic growth, accompanied by expression of skin-specific genes. Transmission electron microscopy (TEM) of
Qiaoli Li +8 more
openalex +5 more sources
Journal of Global Infectious Diseases, 2018 Extrapulmonary manifestations of tuberculosis (TB) are particularly frequent during childhood, and usually involve the lymph nodes and the skull. They are related to predisposing immunosuppression conditions.
Maria Elena Cucuzza +6 more
doaj +2 more sources
Compound Heterozygous Mutations in TGM1 Causing a Severe Form of Lamellar Ichthyosis: A Case Report
Pharmacogenomics and Personalized Medicine, 2022 Jing Zeng, Baihui Shan, Lu Guo, Sha Lv, Fuqiu Li Department of Dermatology, the Second Hospital of Jilin University, Changchun, People’s Republic of ChinaCorrespondence: Fuqiu Li, Department of Dermatology, the Second Hospital of Jilin University, No ...
Zeng J, Shan B, Guo L, Lv S, Li F
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Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation [PDF]
Frontiers in Pediatrics, 2019 Background: Lamellar ichthyosis is an autosomal recessive type of rare skin disorders characterized with defective epidermis leading hyperkeratosis with brownish-gray scales over the body.
Sami Raja Alallasi +11 more
doaj +2 more sources
Lamellar ichthyosis: a case report
The Turkish Journal of Pediatrics, 2002 Ichthyoses are divided into four groups according to clinical, histopathologic and genetic findings. Lamellar ichthyosis is one of them. The incidence of lamellar ichthyosis is believed to be approximately 1 per 100,000 to 300,000 live births.
Hamit Ozyürek, Ayşe Kavak, Murat Alper
doaj +3 more sources