1 citations
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March 2023 in “European Journal of Human Genetics” This retrospective study observed that patients with vascular EDS on long-term angiotensin II receptor blockers or beta-blockers experienced fewer vascular events compared to those without cardiac medication under similar lifestyle and emergency care advice.
October 2024 in “Andrology” This study investigated paternal drug exposure using FDA data and identified significant associations with reproductive health risks, including congenital anomalies linked to immunosuppressive drugs, and emphasized specific risk combinations like biologics and abortion, diazepam and small for date baby, and finasteride and cryptorchidism.
12 citations
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May 2001 in “British journal of dermatology/British journal of dermatology, Supplement” A rare benign skin tumor showed unusual features of sebaceous and sweat glands, important for correct diagnosis.
1 citations
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May 2023 in “Frontiers in endocrinology” The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.
38 citations
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January 2014 in “International Journal of Endocrinology” This review highlights that children with adrenal disorders may experience neurological and psychiatric symptoms, with potential long-term cognitive and behavioral effects from excess glucocorticoids.
11 citations
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May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
October 2025 in “Journal of Skin and Sexually Transmitted Diseases” This study found that thyroid dysfunction was significantly more frequent in patients with alopecia areata compared to a control group, even when they lacked symptoms of thyroid issues, supporting the need for routine thyroid screening in this population.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This index of Harper's Textbook of Pediatric Dermatology, Fourth Edition, provides no clinical results or new findings.
6 citations
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August 2024 in “Biomacromolecules” This study introduces a novel in vitro model for clubfoot fibrosis to enable high-throughput drug screening and found that while the model increased collagen deposition, the antifibrotic drug minoxidil effectively inhibited the expression of collagen cross-linking enzymes.
10 citations
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November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This case report identifies a mutation in the TRPS1 gene, leading to the diagnosis of trichorhinophalangeal syndrome type I in a young girl and her family, highlighting the importance of detailed clinical and family history for proper diagnosis.
1 citations
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April 2023 in “Frontiers in Genetics” This report on individuals with AEBP1-related classical-like EDS confirmed previous findings and identified hair loss as a potential characteristic feature of this rare condition for the first time. Additionally, cardiovascular complications observed in some individuals suggest that cardiovascular monitoring may be necessary.
23 citations
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July 2021 in “Life” This review evaluates the potential benefits and mechanisms of blue light therapy for skin conditions like atopic dermatitis and acne, but highlights the need for further research on safety and clinical protocols.
273 citations
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May 2017 in “The Lancet” This review discusses the diagnosis and management of severe cutaneous adverse reactions to drugs and provides guidance for physicians to improve patient outcomes, but it reports no new clinical results.
158 citations
,
May 1968 in “The journal of nutrition/The Journal of nutrition” This study found that severe zinc deficiency induced in weanling rats led to growth retardation, hair issues, and dermal lesions, all of which were completely reversed by zinc supplementation.
115 citations
,
June 2004 in “Pediatrics” This study found that children are susceptible to SARS-CoV, with good short- to medium-term outcomes, and that sore throat and neutrophilia can predict severe illness.
84 citations
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March 2010 in “Infectious Disease Clinics of North America” The document concludes that rapid identification, isolation, and strict infection control are crucial to manage SARS outbreaks.
49 citations
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April 2015 in “Emerging Infectious Diseases” In this study, artesunate was confirmed as an effective treatment for severe malaria, but post-treatment hemolytic anemia occurred, although it was mostly mild and only one transfusion was needed.
47 citations
,
January 1998 in “Molecular Carcinogenesis” This study observed that targeted expression of the neu oncogene in transgenic mice led to significant epidermal hyperplasia and a carcinoma-like appearance, suggesting a crucial role for erbB2 signaling in epidermal proliferation and carcinogenesis.
40 citations
,
July 2019 in “Journal of Investigative Dermatology” In this study, knockout mice lacking the Cyp4f39 gene showed severe skin barrier dysfunction and high early mortality, suggesting its critical role in skin barrier formation and insights into ichthyosis pathogenesis.
38 citations
,
October 2013 in “Gynecologic and Obstetric Investigation” In this study, severe iron deficiency led to a significant reduction in conception rates in a rat model, suggesting its potential role in unexplained infertility.
36 citations
,
May 2005 in “BMC dermatology” This study found that topical diphenylcyclopropenone was effective in treating severe alopecia areata but had a high relapse rate and was often accompanied by side effects like eczema and lymphadenopathy.
33 citations
,
October 2017 in “Drug Safety” SJS/TEN survivors often have severe, overlooked long-term physical problems that are not properly treated after leaving the hospital.
31 citations
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August 2000 in “Journal of Investigative Dermatology” This study found that when human hair follicles were grafted onto mice, they progressed through dystrophic stages and returned to normal growth, with stem cells aiding in recovery.
30 citations
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August 1998 in “International Journal of Dermatology” This study found that systemic corticosteroids led to satisfactory hair regrowth in 38.9% of severe alopecia areata patients, but hair fall occurred upon therapy discontinuation or tapering.
29 citations
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July 2020 in “Journal of The American Academy of Dermatology” In this study, researchers found that severe androgenic alopecia in hospitalized men was associated with a higher likelihood of testing positive for COVID-19.
29 citations
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June 2010 in “The Journal of Dermatology” This report documents a novel alanine to valine substitution in the GJB2 gene in a Japanese girl with severe keratitis–ichthyosis–deafness syndrome, suggesting a potential link to her severe recurrent infections and immunodeficiency.
26 citations
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August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” This study reports that gastrointestinal problems, such as intractable diarrhea and enterocolitis, can dominate the clinical course of patients with Hoyeraal-Hreidarsson syndrome and may occur before hematological and immunological symptoms.
20 citations
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June 2011 in “ISRN Dermatology (Print)” This case report describes a woman experiencing severe hair loss due to allergic contact dermatitis from a hair dye containing PPD.
19 citations
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November 2016 in “Dermatology and therapy” This study describes a case where stopping infliximab and using oral minocycline with topical treatments effectively resolved alopecia and scalp psoriasis in a woman with Crohn's disease.
19 citations
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November 2012 in “Journal of Dermatological Treatment” In this study, isotretinoin treatment in women with severe acne increased body weight and triglycerides but did not affect androgens or insulin sensitivity.