In this study, the researchers identified that perturbing both AKT1 and MDM2 significantly reduces epithelial-mesenchymal transition in melanoma, proposing Cialis and Finasteride as potential therapeutic candidates with favorable properties for managing aggressive melanoma.
12 citations
,
March 2004 in “International Journal of Dermatology” A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
July 2021 in “British Journal of Dermatology” This report describes a boy with ectodermal dysplasias who was genetically diagnosed due to newly discovered TSPEAR gene variants, which have now been associated with this condition.
This study found that CMV infection in a mouse model of allogeneic transplantation was associated with increased allo-reactive T cell expansion and exacerbated graft-versus-host disease, highlighting the need for effective GvHD prophylaxis and treatment.
20 citations
,
February 2015 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” This case report describes a 6-year-old girl diagnosed with monilethrix despite no familial history and treated with a topical minoxidil trial.
November 2025 in “Indian Journal of Dermatology” This study reports a rare cluster of four patients with ectodermal dysplasia, highlighting its typical dental and dermatological manifestations and the necessity of multidisciplinary management.
15 citations
,
January 2018 in “Journal of Cutaneous Medicine and Surgery” This case report presents a 6-year-old boy with both folliculotropic mycosis fungoides and primary follicular mucinosis, providing insights on differentiating the two conditions in pediatric patients.
4 citations
,
December 2016 in “Blood” This study describes a case of cyclic thrombocytopenia where a novel MPL gene mutation may contribute to the disease, with gene expression changes in platelet and neutrophil genes preceding platelet count fluctuations.
12 citations
,
November 2011 in “International Journal of Dermatology” A woman developed a scalp condition from using minoxidil, which improved with a different treatment but left scarring.
15 citations
,
April 2007 in “Journal of child neurology” This case report describes an 11-month-old boy with Menkes disease, highlighting symptoms such as developmental delays and poor therapeutic response due to significant brain and vascular abnormalities.
3 citations
,
July 2024 in “Annals of Biomedical Engineering” This study found that multiphoton microscopy imaging allows for detailed observation and quantitative analysis of collagen alterations in the progression of endometrial cancer, potentially offering a faster, more accurate method for early diagnosis compared to current protocols.
October 2025 in “Journal of the Endocrine Society” This case study reported that a 40-year-old woman with Graves' disease developed severe thrombocytopenia after starting methimazole, suggesting a rare but serious risk of methimazole-induced immune thrombocytopenia and underscoring the need for close monitoring.
7 citations
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January 2013 in “Pediatrics in review” This article reviews various aspects of menstruation and menstrual disorders in young women, emphasizing the need for proactive management and sensitive communication, but reports no new empirical findings.
September 2022 in “Annals of medicine and surgery” This case report discusses the diagnostic challenges and management options for three siblings with 46, XY DSD due to type 2 5-α reductase deficiency, highlighting the genetic basis and impact on their quality of life.
December 2022 in “Biological and Clinical Sciences Research Journal” This study found that among mixed connective tissue disease patients in a tertiary care hospital in Pakistan, Raynaud phenomenon was the most common clinical feature, present in 80% of patients.
54 citations
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December 2011 in “American Journal Of Pathology” This study found that immune-mediated destruction of bulge stem cells is a key factor in the alopecia observed in AE mice, suggesting it as a model for studying primary cicatricial alopecias, particularly lichen planopilaris.
4 citations
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September 2011 in “American Journal of Clinical Dermatology” This case series suggests that EE/CMA 0.03mg/2mg may help manage dermatological disorders related to androgen excess, as evidenced by symptomatic improvements in the four patients treated.
37 citations
,
May 2016 in “JAAD case reports” This abstract describes monilethrix, an autosomal dominant genodermatosis with symptoms like hair fragility and keratosis pilaris, and does not report new experimental results.
January 2015 in “Nasza Dermatologia Online” This case report describes an eight-year-old Kashmiri boy diagnosed with monilethrix, a rare genetic hair disorder, characterized by a beaded appearance and fragility of the hair shaft.
4 citations
,
July 2013 in “The Journal of Dermatology” This article reports a case of lupus miliaris disseminatus faciei affecting the scalp, which led to scarring hair loss, but it provides no new experimental findings.
7 citations
,
August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
June 2026 in “Clinical Case Reports” This case report observed a 5.5-year-old girl with Ectodermal Dysplasia-Syndactyly Syndrome 1, who experienced improved hair density and thickness with topical minoxidil and tretinoin, suggesting a potential adjunctive role for topical retinoids, though confirmation in larger studies is needed.
12 citations
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July 2004 in “Molecular genetics and genomics” This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.
January 2007 in “Revista del Centro Dermatológico Pascua” This case report describes a 2-year-old boy diagnosed with trichothiodystrophy, characterized by fragile hair, intellectual damage, diminished fertility, and short stature.
March 2025 in “The Scientific Issues of Ternopil Volodymyr Hnatiuk National Pedagogical University Series pedagogy” This review discusses the clinical phenotypes of primary mitochondrial cytopathies linked to significant genetic defects in mitochondrial DNA, reporting no new clinical results; the authors emphasize the need for differential diagnosis.
July 2024 in “Journal of Investigative Dermatology” Pediatric patients with dystrophic epidermolysis bullosa face more hospital admissions, procedures, and complications than others.
87 citations
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March 2017 in “Journal of Clinical Investigation” In this study, researchers identified PSENEN mutations that can lead to a form of Dowling-Degos disease, characterized by follicular hyperkeratosis and an increased susceptibility to acne inversa, especially in the presence of certain trigger factors.
3 citations
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January 2022 in “Journal of The American Academy of Dermatology” This study found that 1 mg/day low-dose oral minoxidil significantly increased hair count compared to 0.25 mg/day over 24 weeks in women with female pattern hair loss, though no differences were observed in hair-shedding and quality-of-life scores between the two doses.
April 2019 in “Journal of Investigative Dermatology” In this report, the potential connection between Merkel cell carcinoma and Curvularia lunata infection in an elderly patient is discussed, highlighting the need for precise diagnostic methods and suggesting that surgery combined with the antifungal voriconazole may be a viable treatment option.
15 citations
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June 2021 in “Medicina” This study found that combined intense pulsed light and low-level light therapy significantly improved ocular surface outcomes and quality of life for patients with meibomian gland dysfunction and dry eye disease.