2 citations
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March 2022 in “Portuguese Journal of Nephrology & Hypertension” This manuscript describes two case reports of preterm newborns with a rare homozygous mutation in the epidermal growth factor receptor, leading to severe health issues and early mortality despite supportive care.
108 citations
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July 2002 in “Molecular and cellular biology” This study found that overexpressing Dsg3 in the suprabasal epidermis of transgenic mice resulted in flaking skin and abnormal hair growth, supporting Dsg3's role in regulating epidermal differentiation.
16 citations
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October 2014 in “Cell death and disease” This study found that over- and ectopic-expression of FoxN1 in early life negatively affected the development of thymic epithelial cells, T and B cells, and skin epithelial cells.
10 citations
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February 2022 in “JMIR Dermatology” This systematic review indicates that patients with Down syndrome have an increased prevalence of various dermatologic disorders, especially infectious, inflammatory, autoimmune, and connective tissue conditions.
March 2026 in “Voprosy dermatologii i venerologii/Dermatologiâ ža̋ne veneralogiâ ma̋selelerì” In this article, the authors describe a successfully treated case of a newborn with ichthyosis using a neonatal protocol involving an incubator with controlled temperature and humidity, sepsis prevention, eye protection, and emollient care without keratolytics during the early neonatal period.
101 citations
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October 2007 in “Journal of Biological Chemistry” This study indicates that reduced activity of the matriptase-prostasin proteolytic cascade is likely the cause of human autosomal recessive ichthyosis with hypotrichosis, as demonstrated using a novel mouse model.
2 citations
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August 2024 in “Preprints.org” This case study reports a potential link between ichthyosis and scalp paresthesia, noting that fluocinolone, a synthetic corticosteroid, was effective in reducing paresthesia episodes, suggesting its possible role in the symptomatic treatment of this condition.
November 2024 in “Journal of Investigative Dermatology” Inherited ichthyosis negatively impacts quality of life, affecting daily activities, self-image, and reproductive decisions.
6 citations
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August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This report identified three novel genetic mutations associated with congenital ichthyosis in Italian newborns and emphasized the importance of next-generation sequencing for personalized patient management.
January 2015 in “Springer eBooks” Ichthyoses are skin disorders causing scales, with treatment depending on type and severity.
November 2022 in “Journal of Investigative Dermatology” This study found that the immunological characterization of ichthyoses as psoriasiform or atopic patterns could help improve treatment, highlighting the need for targeted therapies to address itch and skin inflammation.
August 2025 in “Biomedicines” In this case report, half-siblings with bullous congenital ichthyosiform erythroderma were found to have a susceptibility to Trichophyton rubrum infection, successfully treated with oral terbinafine.
1 citations
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November 2013 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” This article reviews the presentations from the First Symposium of Ichthyosis Experts in Spain, held to address the challenges in organizing care for ichthyosis patients, and reports no new clinical results.
3 citations
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January 2015 in “Indian journal of paediatric dermatology” This case report describes an 18-month-old male with ichthyosis follicularis alopecia photophobia syndrome who experienced transient improvement in skin symptoms after oral isotretinoin treatment.
36 citations
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September 2015 in “Orphanet Journal of Rare Diseases” This review discusses ichthyosis with confetti, highlighting its genetic basis, clinical features, diagnostic criteria, and current treatment options but reports no new clinical results.
16 citations
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September 2015 in “International Journal of Molecular Sciences” In this study, a genetic analysis identified a pathogenic variant in the ALOXE3 gene associated with non-bullous congenital ichthyosiform erythroderma, and the patient's response to antifungal treatment highlights the risk of cutaneous fungal infections.
43 citations
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December 2013 in “Seminars in Cell & Developmental Biology” This mini-review discusses human hair follicle development and summarizes genetic disorders linked to abnormalities in hair follicle morphogenesis, structure, or regeneration, but reports no new experimental results.
15 citations
,
November 2002 in “Cardiology in Review” This review discusses various adverse skin reactions linked to cardiovascular medications and reports no new clinical results, highlighting the need for vigilance when prescribing these drugs.
8 citations
,
September 2016 in “Reviews in Endocrine and Metabolic Disorders” Skin health and diseases are closely linked to metabolic processes.
research Acne
2 citations
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May 2011 in “Harper's Textbook of Pediatric Dermatology” Acne is a common skin condition linked to diet, hormones, and genetics, and early treatment can prevent scarring.
February 2025 in “Archives animal breeding/Archiv für Tierzucht” This study found that certain gene polymorphisms in keratin 27 and ELOVL4 are linked to improved cashmere fineness and production traits in Liaoning cashmere goats.
January 2025 in “Dermatology Review” This case report from the provided study details a previously unreported adverse effect of salivary gland inflammation potentially linked to acitretin therapy for generalized pustular psoriasis, suggesting further research is needed to explore this association.
July 1980 in “Journal of The American Academy of Dermatology” The conference concluded that understanding hair and nail disorders is important, iron deficiency may be linked to hair loss, and while some treatments for skin conditions are effective, they may have risks and high costs.
70 citations
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January 2014 in “International review of cell and molecular biology” This review discusses the role of keratins in maintaining epidermal structure and function and reports no new results; the authors emphasize the lack of rational therapies for skin disorders linked to keratin mutations.
9 citations
,
February 2022 in “Nature communications” This study identified KRT82 as a significant Alopecia Areata risk gene, finding that rare damaging variants are linked to elevated immune cell infiltration around hair follicles in affected individuals.
7 citations
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June 2024 in “Communications Medicine” In this study, researchers analyzed spaceflight data from various sources and found that skin issues during spaceflight are linked to DNA damage, mitochondrial dysregulation, and gene alterations, while also highlighting the skin's adaptability post-flight.
April 2026 in “Biomedical Research and Therapy” This study found that certain genetic variants, specifically CYB5R1 and IL1A, may be linked to different types of acne scarring, with CYB5R1 associated with atrophic scarring and IL1A with fibrotic scarring, indicating a potential polygenic nature of acne scarring.
March 2026 in “Nature Communications” In this study, researchers conducted a large genome-wide association meta-analysis and found 30 significant genetic loci linked to the risk of dermatophytosis, shedding light on the roles of keratin biology, skin barrier defects, immune dysfunction, and obesity in the disease.
17 citations
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June 2016 in “Croatian Medical Journal” In this study, vitiligo and alopecia areata were more common among patients with chronic graft-vs-host disease than previously reported, linked to higher NIH skin scores and greater immunosuppressive treatment.
5 citations
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January 2015 in “Case reports in medicine” In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.