13 citations
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April 2024 in “JAAD Case Reports” This review discusses current treatments for discoid lupus erythematosus and highlights anifrolumab as a promising option for difficult cases, but no new clinical results are reported.
June 1996 in “Journal of Dermatological Science” 3 citations
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April 2018 in “Journal of Investigative Dermatology” CCCA may be a fibroproliferative disorder, and anti-fibrotic therapies could help.
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.
11 citations
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September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
July 2023 in “Clinical, cosmetic and investigational dermatology” In this study, reflectance confocal microscopy was used to diagnose periorificial dermatitis, revealing specific skin changes such as hair follicle dilatation, increased vascular density, and inflammation, which help distinguish it from similar conditions.
72 citations
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July 2008 in “Dermatologic Therapy” This article reviews central centrifugal cicatricial alopecia in African-descent females, discussing possible causes, associated styling habits, and potential treatments, but reports no new clinical findings; the authors call for further research.
December 2022 in “Journal of The American Academy of Dermatology” The authors maintain there is a significant link between vitamin D deficiency and central centrifugal cicatricial alopecia in Black patients, and call for more research on the topic.
19 citations
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January 2015 in “Skin appendage disorders” This study identified a new variety of central centrifugal cicatricial alopecia that includes patchy hair loss on the lateral and posterior scalp in African-American women, which could be misdiagnosed as traction alopecia without dermatoscopy and pathology.
7 citations
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April 2022 in “Cutis” This article discusses the rise of direct-to-consumer teledermatology platforms, warning that they might cause overdiagnosis, overtreatment, and fragmented healthcare, and emphasizes the need for patient counseling about these risks and benefits.
19 citations
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February 2001 in “Journal of paediatrics and child health” This report documents a 14-year-old Chinese boy with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, and a de novo A3243G mitochondrial DNA mutation, highlighting the condition's multisystem involvement without ragged red fibers in muscle biopsy.
5 citations
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July 1996 in “Journal of Cutaneous Medicine and Surgery” This study explains that while trichothiodystrophy and xeroderma pigmentosum share genetic defects, TTD patients primarily exhibit issues in transcription initiation, not the increased skin cancer risk seen in XP.
7 citations
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January 2010 in “JAMA” This abstract highlights that preliminary results from the REDUCE trial indicate dutasteride may lower prostate cancer incidence by 23% in older men compared to a placebo.
November 2022 in “Journal of Investigative Dermatology” This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.
6 citations
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July 2011 in “British Journal of Dermatology” This paper reports a case of sebaceous carcinoma developing at the site of chronic candidiasis in a patient with keratitis–ichthyosis–deafness syndrome, without presenting new generalizable findings.
57 citations
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July 2000 in “Toxicology Letters” This study found that the K6/ODC transgenic mouse model is highly sensitive to identifying genotoxic carcinogens, showing 100% concordance with traditional rodent bioassays.
89 citations
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March 1996 in “Proceedings of the National Academy of Sciences” This study found that homozygous mutant mice with a hypomorphic CD18 mutation developed a chronic inflammatory skin disease resembling human psoriasis, potentially implicating additional genetic factors in disease susceptibility.
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
January 2023 in “PARIPEX INDIAN JOURNAL OF RESEARCH” This article discusses various causes of rickets in children and describes VDDR-2A as a type of refractory rickets often linked to alopecia totalis in infancy, but reports no new clinical findings.
1 citations
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September 2023 in “Dermatology and therapy” This review explores the efficacy and safety of treatments for dissecting cellulitis of the scalp, revealing a predominance of case reports and series, and concludes that randomized controlled trials are needed for better evidence-based therapies.
7 citations
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January 2015 in “Case reports in genetics” This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.
April 2018 in “Journal of Investigative Dermatology” This study found that deleting all three Desmoglein 1 genes in mice led to impaired skin barrier function, disorganized epidermis, and postnatal lethality, highlighting Dsg1's essential role in epidermal development and maintenance.
In this study, deleting the -catenin gene in vitamin D receptor-null mice did not prevent tumor development, suggesting -catenin's predicted protective role was not observed.
9 citations
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October 2020 in “Journal of the American Academy of Dermatology” Patients with central centrifugal cicatricial alopecia may have a higher risk of breast and colorectal cancer.
6 citations
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November 2017 in “Scientific reports” This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.
20 citations
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February 2019 in “Genes” This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.
1 citations
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September 2023 in “International Journal of Women’s Dermatology” This article discusses the teratogenic risks of skin condition treatments for individuals with DSD and notes that testosterone replacement, often used in this population, may cause acne.
September 2024 in “Colloids and Surfaces B Biointerfaces” This study found that cedrol nanoemulsions significantly promote hair follicle regeneration and reduce DHT levels in an androgenic alopecia mouse model, suggesting potential efficacy in AGA treatment.
1 citations
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January 2024 in “Wiadomości Lekarskie” This study evaluated a new computer-aided detection system for identifying Breast Arterial Calcification in mammograms, achieving 70% accuracy, but highlighted the need for a larger dataset to explore its relationship with cardiovascular diseases.