May 2024 in “Indian Journal of Dermatology” In this case report, a 22-year-old female was diagnosed with follicular Dowling-Degos disease based on clinical and histological findings, with symptoms including skin lesions confined to hair follicles. The report emphasizes the importance of differentiating this rare variant from similar conditions for proper management.
80 citations
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March 2004 in “Neuropediatrics” This article presents an update on a family with Coats' plus disorder, documenting additional symptoms and two new similar cases, and reviews literature suggesting a link to dyskeratosis congenita for potential molecular insights.
This study introduced the C-CAT, a new assessment tool for central centrifugal cicatricial alopecia, and found that established treatments improved symptoms in most patients over six months.
4 citations
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October 2018 in “Asia-Pacific Journal of Clinical Oncology” This review discusses the use of CDK4/6 inhibitors with endocrine therapy in treating women with HR+ HER2- advanced breast cancer, but it reports no new clinical findings.
March 2025 in “OncoTargets and Therapy” This study found that in circulating tumor cells from non-invasive liquid biopsies, the GG genotype of the CYP3A5 A6986G affects longer disease-free survival in DLBCL patients, highlighting the significance of circulating biomarkers for prognostic evaluation.
May 2012 in “The journal of nervous and mental disease” This review discusses various aspects of Impulse Control Disorders, but reports no new clinical findings; the authors highlight existing knowledge gaps and the need for proven treatments.
3 citations
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June 2018 in “Internal Medicine” In this study, a patient with Cronkhite-Canada syndrome complicated by severe sepsis and disseminated intravascular coagulation was successfully treated using combined therapies, including recombinant human soluble thrombomodulin, despite the absence of a standard treatment regimen for CCS.
6 citations
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December 2004 in “Anais Brasileiros de Dermatologia” This study describes a family with loose anagen hair syndrome associated with macular dystrophy, suggesting this combination may represent a new disease entity among ectodermal dysplasias.
1 citations
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November 2021 in “World Family Medicine Journal /Middle East Journal of Family Medicine” This study aims to determine if an integrated early childhood development package can reduce developmental delays among two-year-old children in public health centers in Pakistan.
January 2017 in “International journal of biomedical engineering and clinical science” This case report describes significant skin and oral mucosa lesions in a 19-year-old patient with cri-du-chat syndrome, highlighting their impact on her nutritional status and quality of life.
15 citations
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August 2022 in “The Application of Clinical Genetics” This review describes the clinical presentation, diagnosis, and management of adrenomyeloneuropathy, including rehabilitative therapies and spasticity management, and reports no new clinical results.
16 citations
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June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that DHHC13 is crucial for hair anchoring and skin barrier function, with its deficiency in Zdhhc13(skc4) mice leading to cyclic alopecia and skin abnormalities due to cornifelin deficiencies.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.
October 1993 in “The Journal of Clinical Pharmacology”
4 citations
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November 2021 in “Frontiers in endocrinology” This study systematically compared pediatric and adult Cushing's disease patients, revealing more severe and earlier-onset symptoms in males, and distinct gender-specific clinical manifestations.
1 citations
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September 2024 in “Journal of the American Academy of Dermatology” Farudodstat may effectively treat alopecia areata without harmful side effects.
5 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a high-risk allele in the PLCD1 gene associated with hereditary trichilemmal cyst formation, proposing a monoallelic two-hit mechanism as the underlying genetic pathogenesis.
November 2022 in “Journal of Investigative Dermatology” This study found that dysregulation of the DNA damage response in stem cells is a common factor of aging, affecting tissues like the skin, brain, kidneys, and intestine.
19 citations
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August 2023 in “Experimental & Molecular Medicine” This study found that the CXXC5 protein is overexpressed in diabetic foot ulcer tissues, suppressing wound healing, and that the small molecule KY19334 accelerated healing in diabetic mice by activating the Wnt/β-catenin pathway.
15 citations
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November 2012 in “International Journal of Dermatology” This case series observed a potential familial link in central centrifugal cicatricial alopecia (CCCA), suggesting a genetic predisposition that may be worsened by hair grooming practices.
August 2026 in “British Journal of Dermatology” sCD83 shows promise for treating hair loss by promoting growth and reducing inflammation.
2 citations
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September 2019 in “Journal of the American Academy of Dermatology” USB videodermatoscopes are a practical and affordable alternative for diagnosing skin conditions.
June 2023 in “Journal of Clinical Oncology” This study found that alopecia induced by CDK4/6 inhibitors in breast cancer patients occurs more quickly and is more resistant to minoxidil treatment compared to endocrine therapy-induced alopecia.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” This study found that chromosomal microarray analysis identified copy number variations in 12% of patients with dysmorphic features and congenital anomalies, demonstrating its potential as a diagnostic tool, especially for rare CNVs and immune deficiency linked to the deletion of CTLA4.
14 citations
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May 2019 in “Human gene therapy” This study found that minicircle-based gene therapy significantly lowered total homocysteine levels and improved liver CBS activity in a mouse model of CBS deficiency.
October 2024 in “Cermin Dunia Kedokteran” This article discusses the surveillance and spread of hand, foot, and mouth disease in China, Singapore, and Indonesia, and reports no new results, emphasizing the need for improved prevention and management strategies.
2 citations
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April 2018 in “Journal of Investigative Dermatology” This study defines two types of RDEB wounds, chronic open and recurrent, and finds that patient self-reports on wound size correlate well with investigator measurements when complemented by serial photography.
5 citations
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May 2019 in “Anais Brasileiros de Dermatologia” This article discusses the connection between prenatal androgen exposure, marked by the second-to-fourth digit ratio, and seborrheic dermatitis, but reports no new experimental findings.
March 1998 in “Journal of dermatological science” Diphencyprone initially increases mouse hair growth, then slows it, possibly due to changes in specific protein levels.
October 2024 in “Journal of the Endocrine Society” This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.