June 2025 in “British Journal of Dermatology” This case series highlighted three pediatric patients with congenital nail anomalies, revealing underlying developmental or genetic issues such as symbrachydactyly and potential Adams–Oliver syndrome, underscoring the critical role of dermatologists in early detection and diagnosis of these conditions.
44 citations
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November 2009 in “Archives of Dermatology” This study observed that patients with CYLD mutations frequently experienced severe, painful tumors beyond the head and neck, impacting their quality of life, with hormonal factors possibly contributing to tumor development.
February 2025 in “Gastroenterology” Corticosteroids improved symptoms in a man with Cronkhite-Canada Syndrome.
37 citations
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August 2016 in “Clinical, Cosmetic and Investigational Dermatology” This article discusses central centrifugal cicatricial alopecia, highlighting its prevalence, potential genetic factors, and management challenges, but reports no new clinical conclusions and calls for further research.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
7 citations
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January 2018 in “Neurodegenerative Diseases” This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.
3 citations
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December 2013 in “Balkan Journal of Medical Genetics” This case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.
28 citations
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August 2001 in “Journal of cutaneous medicine and surgery” This review discusses the increased incidence of dermatological conditions in individuals with Down's syndrome and explores potential links to immunological deficiencies, but reports no new clinical findings.
9 citations
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October 2008 in “Mutation research” This article discusses the genomic and postgenomic changes in chronic degenerative diseases and cardiovascular and skin disease contexts, highlighting potential modulation through diet and pharmacological interventions without presenting new experimental results.
10 citations
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December 2015 in “International Journal of Molecular Sciences” This study suggests that PDCD4 regulates keratinocyte proliferation and contact inhibition, playing a role in epidermal homeostasis and wound healing.
In this case report, an 11-year-old girl with dissecting cellulitis of the scalp showed an excellent response to oral isotretinoin after other treatments failed, highlighting the treatment challenges and need for awareness in managing this rare condition.
January 2023 in “Pediatrics International” This case study describes the diagnosis and treatment of a Japanese girl with non-classical 21-hydroxylase deficiency, highlighting the normalization of testosterone and control of clitoromegaly after hydrocortisone therapy, but continued overgrowth issues.
4 citations
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January 2018 in “International Journal of Trichology” This case report describes a 4-year-old girl with hypotrichosis and juvenile macular dystrophy, linked to mutations in the cadherin 3 gene affecting P-cadherin expression.
March 2024 in “Egyptian Journal of Veterinary Science” This study investigated the effects of nandrolone decanoate on adult rabbits and reported that administering 10 mg/kg for 15 days caused harmful histological changes in the heart, liver, and kidneys, including inflammation and tissue degeneration.
October 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” This study discovered a novel mechanism by which germ stem cells exit their niche in C. elegans, involving thin membranous protrusions from adjacent somatic gonad cells.
January 2019 in “ISGE series” This study found that estradiol and other sex steroids reduced the capture of monocytes by human endothelial cells in vitro, potentially inhibiting the formation of atherosclerosis by promoting nCAM polysialylation, which interferes with leukocyte tethering to the vascular endothelium.
47 citations
,
April 2017 in “European Journal of Pharmaceutics and Biopharmaceutics” This study found that dutasteride-loaded nanostructured lipid carriers coated with a stearic acid-chitosan oligomer are stable, less cytotoxic, and suitable for topical delivery to promote hair growth.
April 2019 in “Journal of Investigative Dermatology” This study identifies a mechanism where dsRNA activates TLR3 to induce RA production, promoting hair follicle regeneration in mice and suggesting a potential role in human tissue regeneration.
January 2022 in “Mammalian Genome” This study found that the wavy coat trait in Nakano cataract mice is polygenic, involving major and minor genes, and resembles human curly scalp hair associated with the PRSS53 gene alteration.
May 2024 in “Animal genetics” The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.
67 citations
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December 2015 in “Journal of the National Comprehensive Cancer Network” This review summarizes NCCN guidelines for prostate cancer early detection, focusing on strategies to maximize detection of potentially curable cases while minimizing unnecessary procedures, but it reports no new clinical findings.
2 citations
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July 2018 in “Our Dermatology Online” This case report documents the first known instance of nevoid hyperkeratosis of the nipple and areola with unilateral presentation in a Saudi female, diagnosed through clinical evaluation and biopsy.
February 2020 in “Oncology Times” This article reviews antibody drug conjugates for cancer treatment, describing their mechanism, recent approvals, and ongoing research efforts, but reports no new clinical results.
12 citations
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February 1986 in “PubMed” This study found that newborn mice given 6-aminonicotinamide developed skin, intestinal, and central nervous system lesions, offering insights into the mechanisms of pellagra.
March 2005 in “Journal of The American Academy of Dermatology” Diphencyprone treatment protocols could be simplified as no harm occurred despite not fully following them.
38 citations
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April 2017 in “Journal of The American Academy of Dermatology” This review discusses psychocutaneous syndromes, detailing their classifications and management strategies, but reports no new clinical findings; it underscores dermatologists' role in these cases.
1 citations
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July 2017 in “PubMed” This study describes two Danish cases of Cronkhite-Canada syndrome presenting with malnutrition and gastrointestinal issues; both patients underwent successful treatment and remission after developing colonic adenocarcinomas.
March 2012 in “Journal of The American Academy of Dermatology” Hand-foot-mouth disease may cause nail loss in children.
4 citations
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January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
9 citations
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July 2020 in “JAMA dermatology” This study explored dermatoscopic and histopathologic findings of central centrifugal cicatricial alopecia beyond the vertex scalp, suggesting that dermatoscopy might serve as a less invasive diagnostic tool for subclinical disease.