Results 81 to 90 of about 72,798 (235)

Increased risk of depression and impairment in quality of life in patients with lamellar ichthyosis

Dermatologic Therapy, 2020
Lamellar ichthyosis (LI) is a genetic skin disorder characterized by dark brown scales, palmoplantar hyperkeratosis, pain, and itching. LI severity could have implications in psychological aspects, causing depression and impairment in the quality of life
H. Cortés, Martín Rojas-Márquez, O. Reyes-Hernández, Juan C Morales-Morfín, Mario R B Guapillo-Vargas, Miguel Varela-Cardoso, J. Magaña, G. Leyva-Gómez, M. Carmen   +8 more
semanticscholar   +1 more source

The role of NRF2 transcription factor in inflammatory skin diseases

BioFactors, Volume 51, Issue 2, March/April 2025.
Nrf2 is essential for maintaining skin homeostasis and regulating inflammation. This review highlights the multifaceted role of Nrf2 in skin inflammatory diseases like atopic dermatitis and psoriasis. While Nrf2 activation can be therapeutic, excessive activation can paradoxically exacerbate skin conditions.
Sara Salman, Virginie Paulet, Kévin Hardonnière, Saadia Kerdine‐Römer   +3 more
wiley   +1 more source

Lamellar ichthyosis and arthrogryposis in a premature neonate [PDF]

Journal of Dermatological Case Reports, 2015
Lamellar ichthyosis is a rare congenital disorder characterized by collodion membrane at birth and facial anomalies (eclabium and ectropion). The major underlying genetic defect is in TGM1, with mutations of this gene found in 50% of patients. An early diagnosis is fundamental in view of establishing a specific treatment due to the severity of the ...
Chiara De Leonibus, Claudio Lembo, Alfredo Santantonio, Tiziana Fioretti, Silvana Rojo, Francesco Salvatore, Massimiliano De Vivo, ESPOSITO, GABRIELLA, Paolo Giliberti   +8 more
openaire   +4 more sources

Analysis of biomedical and health queries: Lessons learned from TREC and CLEF evaluation benchmarks [PDF]

, 2015
International audienceBACKGROUND:Inherited ichthyoses represent a group of rare skin disorders characterized by scaling, hyperkeratosis and inconstant erythema, involving most of the tegument. Epidemiology remains poorly described.
Chouquet, Cécile, Palmer, Thomas, Tamine, Lynda   +2 more
core   +2 more sources

Quality of life in Swedish children with congenital ichthyosis

Dermatology Reports, 2010
Congenital ichthyosis encompasses a large group of keratinizing disorders with widespread scaling and a variable degree of erythema. Little is known about the quality of life in children with congenital ichthyosis and the impact of the disease on their ...
Agneta Gånemo
doaj   +1 more source

Mild lamellar ichthyosis with a truncated homozygous TGM1 mutation in a pediatric patient from Turkey

Dermatologic Therapy, 2020
Dear Editor, Autosomal recessive congenital ichthyosis is divided into two groups as lamellar ichthyosis (LI) and nonbullous ichthyosis. In many genes, such as ALOX12B, ALOXE3, CYP4F22, ABCA12 and NIPAL4, mutations related to this disease were defined ...
I. G. İmren, Efsun Tanacan, S. Ceylaner, G. Sumer, M. Ekşioğlu   +4 more
semanticscholar   +1 more source

Trichothiodystrophy due to ERCC2 Variants: Uncommon Contributor to Progressive Hypomyelinating Leukodystrophy

Molecular Genetics &Genomic Medicine, Volume 13, Issue 2, February 2025.
This study reports a novel case of trichothiodystrophy (TTD) linked to compound heterozygous ERCC2 variants, presenting with progressive cerebral hypomyelination. The findings highlight a rare association between ERCC2 mutations and hypomyelinating leukodystrophy, expanding the current understanding of TTD‐related neurodevelopmental disorders. ABSTRACT
Ali Reza Tavasoli, Arastoo Kaki, Maedeh Ganji, Seyyed Mohammad Kahani, Foozhan Radmehr, Pouria Mohammadi, Morteza Heidari, Mahmoud Reza Ashrafi, Kara S. Lewis   +8 more
wiley   +1 more source

A Report of Two Cases of TGM1 Mutations in Iranian Patients with Lamelar Ichthyosis [PDF]

, 2011
ObjectiveAutosomal Recessive Congenital Ichthyosis (ARCI) is a rare, heterogenous keratinization disorder of the skin, classically divided into two clinical subtypes, Lamellar Ichthyosis (LI) and Nonbullous Congenital Ichthyosi-formis Erythroderma (NCIE).
ARYANI, Omid, FARAJI, Abolfazl, HOUSHMAND, Massoud, MOBARAKI, Maryam, SEYYED HASSANI, Seyyed Mohammad, YAZDI, AmirReza   +5 more
core   +2 more sources

DSP missense variant in a Scottish Highland calf with congenital ichthyosis, alopecia, acantholysis of the tongue and corneal defects

BMC Veterinary Research, 2022
Background Ichthyosis describes a localized or generalized hereditary cornification disorder caused by an impaired terminal keratinocyte differentiation resulting in excessive stratum corneum with the formation of more or less adherent scales. Ichthyosis
Irene M. Häfliger, Caroline T. Koch, Astrid Michel, Silvia Rüfenacht, Mireille Meylan, Monika M. Welle, Cord Drögemüller   +6 more
doaj   +1 more source

Oral manifestations of lamellar ichthyosis in association with rickets

BMJ Case Reports, 2020
Lamellar ichthyosis (LI) is a rare genetic condition that affects the skin, with an incidence of less than 1:300 000 in different parts of the world. This report describes a case of a 5-year-old girl with LI and rickets presenting with premature loss of ...
N. Tewari, V. Mathur, Rigzin Tamchos, M. Rahul   +3 more
semanticscholar   +1 more source