17 citations
,
August 2012 in “Journal of Medical Genetics” This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.
6 citations
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” In this study, eight patients with hereditary vitamin D-resistant rickets who share a specific VDR mutation showed improved clinical symptoms except alopecia after up to 11 years of treatment.
13 citations
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June 2006 in “Pituitary” This article reports on a case where a 26-year-old woman with acromegaloidism was found to have X-tetrasomy, suggesting it should be considered in differential diagnoses due to its potential impact on growth-related genes.
September 2023 in “Journal of the American Academy of Dermatology” This study found that the incidence of major adverse cardiovascular events in patients with psoriasis, psoriatic arthritis, and axial spondyloarthritis who received Ixekizumab was low and stable over 3 to 5 years across 25 clinical trials.
May 2025 in “CPT Pharmacometrics & Systems Pharmacology” This study examined the safety profile of ritlecitinib, a drug for alopecia areata, and found that it does not cause significant QTc prolongation or severe lymphopenia, with no unique safety risks expected in adolescents.
116 citations
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December 2003 in “Acta Dermato Venereologica” This study reports that Iressa, an anti-cancer agent, commonly causes acneiform eruptions and xerosis as cutaneous side effects, similar to other agents targeting epidermal growth factor receptors.
1 citations
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November 2024 in “Cureus” This case report describes a rare aggressive variant of squamous cell carcinoma on the scalp of a non-immunosuppressed older male, highlighting its high biological risk for metastasis and poor outcomes.
6 citations
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January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This case series describes three siblings with hereditary vitamin D-resistant rickets, highlighting variations in their clinical presentations.
4 citations
,
April 2021 in “Experimental Dermatology” This study shares preliminary findings that roxithromycin treatment tendentially increased hair shaft production and altered the hair follicle microbiota in human hair ex vivo, with substantial inter-individual differences observed.
March 2021 in “Research Square (Research Square)” This study found that strontium ranelate may promote cartilage regeneration by enhancing chondrogenic differentiation and inhibiting the Wnt/β-catenin signaling pathway in rat models of cartilage defects.
4 citations
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April 2020 in “Dermatology practical & conceptual” This review outlines the practical use of reflectance confocal microscopy in dermatology, detailing its applications and considerations for diagnosing various skin conditions, but reports no new findings.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.
6 citations
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March 2017 in “Journal of the European Academy of Dermatology and Venereology” This article reviews genetic mutations linked to monilethrix, a hereditary hair disorder, and reports no new clinical findings on the condition's variability in symptoms and severity.
9 citations
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March 2018 in “European journal of dermatology/EJD. European journal of dermatology” This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.
36 citations
,
January 2018 in “Clinical and Medical Reports” Rare earth elements are crucial in medical imaging and cancer treatment.
December 2023 in “International Journal of Dermatology” This study found an increased risk of asthma and allergic rhinitis in individuals with hidradenitis suppurativa.
This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.
7 citations
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January 1993 in “Rheumatology” This article discusses suspected skin toxicity from drugs used to treat rheumatoid arthritis but reports no new clinical findings.
November 2007 in “Pediatrics in review” This piece discusses the conditions of three children with disparate symptoms—suggesting silent aspiration, exogenous androgen exposure, and long QT syndrome—and emphasizes comprehensive assessment and history for correct diagnosis and management.
13 citations
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March 2019 in “Pharmacology Research & Perspectives” This study analyzed CADR reports in Singapore, finding nonsteroidal anti-inflammatory drugs, antibiotics, and iohexol frequently associated with serious skin reactions like rash and angioedema, with trends varying by demographics.
April 2021 in “Journal of Investigative Dermatology” Krox20 is crucial for hair growth and maintaining skin stem cells.
May 2025 in “Proceedings of the National Academy of Sciences” In this study, researchers found that the histone demethylase UTX is crucial for regulating skin differentiation through retinoic acid signaling, mainly impacting females, as males compensate with a Y-linked paralog.
January 2026 in “Clinical and Experimental Dermatology” In this case report, complete hair regrowth was observed in a patient with autoimmune-related alopecia areata after treatment with a Janus kinase inhibitor, suggesting its potential effectiveness for both genetic and sporadic forms of the condition.
42 citations
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January 2015 in “Polskie Archiwum Medycyny Wewnętrznej” This study found that certain gene polymorphisms, specifically MTHFR 677CC and GGH 401TT and CT genotypes, were associated with fewer adverse effects from methotrexate in rheumatoid arthritis patients.
August 2015 in “Han'gug dongmul jawon gwahag hoeji/Han-guk dongmul jawon gwahak hoeji/Journal of animal science and technology” This study reported variable expression levels of TRα and CRABPII genes during the prenatal development of cashmere goats, contributing to an understanding of hair follicle formation in these animals.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified multiple mutations in the 5 alpha-reductase-2 gene among male pseudohermaphrodites in the Dominican Republic, suggesting they do not share a common ancestry.
5 citations
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June 2001 in “Annals of Internal Medicine” This report describes a case where rituximab provided durable remission in a patient with refractory aggressive diffuse B-cell lymphoma that was unresponsive to prior chemotherapy.
6 citations
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November 2023 in “Lara D. Veeken” The authors concluded that sexual dysfunction is highly prevalent yet often overlooked in patients with autoimmune rheumatic disease, and they emphasize the need for increased awareness, research, and integration into clinical practice.
11 citations
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December 2015 in “Indian journal of dermatology, venereology, and leprology” Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.
July 2025 in “The Journal of Dermatology” This study identified common and unexpected adverse events associated with ritlecitinib in real-world use, providing insights into its safety profile for treating severe alopecia areata.