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420-450 / 1000+ resultsresearch 481 Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic changes in specific proteins contribute to hair loss in some women of African descent.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End ofKRT10
This study identified major criteria including ectodermal malformations for diagnosing ichthyosis with confetti, and revealed significant genetic variation in the disease locus within the general population.
research Topical SCD-153, a 4-methyl itaconate prodrug, for the treatment of alopecia areata
In laboratory experiments, this study found that the topical prodrug SCD-153, a derivative of 4-methyl itaconate, reduced inflammation-related gene expression and induced significant hair growth in mice, suggesting it as a promising treatment candidate for alopecia areata.
research Novel small molecules downregulate CDK1 expression and inhibit Wnt/β-catenin signaling in cutaneous squamous cell carcinoma by targeting its distinct tumor-specific cellular landscape
This study observed that the small molecules KY19382 and KY19334 inhibited cancerous traits in human cutaneous squamous cell carcinoma cells by suppressing the Wnt/β-catenin pathway, indicating their potential as treatments for cancers involving CDK1 overexpression and diseases related to CXXC5 accumulation.
research Measuring steroids in hair opens up possibilities to identify congenital adrenal hyperplasia in developing countries
This study found that measuring certain steroids in hair can help diagnose and monitor congenital adrenal hyperplasia in Indonesian patients, offering a simple noninvasive method for developing countries.
research Hypotrichosis with juvenile macular dystrophy
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.
research Accessibility of direct-to-consumer teledermatology to underserved populations
Direct-to-consumer teledermatology is not effectively reaching underserved populations due to language, technology, and insurance barriers.
research Revisión sistemática de los efectos adversos cutáneos causados por fármacos inhibidores de los puntos de control inmunitario: características, manejo y pronóstico
This review discusses the characteristics and treatment recommendations for skin-related adverse effects from immune checkpoint inhibitors in cancer treatment, and notes an observed association with favorable oncology outcomes that requires careful interpretation.
research A case of encephalocraniocutaneous lipomatosis
This case report describes a young man diagnosed with encephalocraniocutaneous lipomatosis who had unique bilateral optic disc colobomas, a previously unreported association with this syndrome.
research Novel Formula as Mosquito Larvicide
This study found that combining prodigiosin and essential oil from Thuja orientalis leaves showed a synergistic effect against the 3rd larva stage of Cx. pipiens, significantly reducing acetylcholine esterase activity and altering midgut pH, compared to untreated larvae.
research Dienogest vs. combined oral contraceptive: A systematic review and meta‐analysis of efficacy and side effects to inform evidence‐based guidelines
This meta-analysis reported that dienogest and combined oral contraceptives had comparable efficacy and tolerability for endometriosis treatment, with therapeutic choice suggested to be based on patient preference and clinical history.
research The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant
This study reports a unique case of common variable immunodeficiency with autoimmunity linked to a heterozygous S250C variant in the autoimmune regulator gene, suggesting a potential molecular basis for this combination.
research 0416 Involvement of calcinosis cutis in autoimmune connective tissue diseases
research Current and future perspectives on clinical management of classic 21-hydroxylase deficiency
This review discusses the challenges in optimizing glucocorticoid treatment for classic 21-hydroxylase deficiency, emphasizing individualized care and the need for comprehensive management, but presents no new findings.
research Targeting noncanonical nuclear factor kappa B signalling in CYLD cutaneous syndrome by selective inhibition of IκB kinase alpha
In this study, researchers found that inhibiting IKKα in patient-derived CCS tumour models reduces tumour viability, supporting the potential for topical IKKα inhibitors as a treatment for CCS.
research Diphenylcyclopropenone: An Important Agent Known to Cause Depigmentation / Reply
research DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA
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.
research 175 Understanding immune privilege in an inducible mouse model of primary cicatrcial alopecia
This study reports that CD200R expression is significantly reduced in an experimental mouse model of scarring alopecia, suggesting a potential role for this pathway in immune regulation and hair follicle protection.
research Pigmented contact dermatitis due to therapeutic sensitizer as complication of contact immunotherapy in alopecia areata
This study found that hyperpigmentation following contact immunotherapy for severe alopecia areata may indicate poor treatment responsiveness and aligns with characteristics of pigmented contact dermatitis.
research Dilation of Multiple Eccrine Ducts as a Highly Specific Marker for Cicatricial Alopecia
This study found that multiple eccrine duct dilation is highly specific for diagnosing cicatricial alopecia and may indicate scarring processes, aiding in accurate differential diagnosis from noncicatricial alopecias.
research Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.
research PA05 A rare case of cardiocutaneous syndrome in a young child
In this case study, a 19-month-old infant with palmoplantar keratoderma and nail dystrophy was found to have a desmoplakin gene mutation, leading to cardiomyopathy by age 7, illustrating diagnostic challenges and the potential link between skin, dental, and cardiac anomalies.
research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
In this study, genetic testing confirmed the diagnosis of Androgen insensitivity syndrome in most CAIS patients in Tunisia and identified two previously unreported mutations in the androgen receptor gene.
research Angle closure in fellow eye with prophylactic pilocarpine treatment
This report discusses the use of intralesional cidofovir and suggests it might be a viable option for treating SCC due to its successful outcome without observed systemic toxicity in this case.
research A retrospective chart review of central centrifugal cicatricial alopecia patients at a single urban institution
This study, conducted at Montefiore Medical Center, reports that central centrifugal cicatricial alopecia predominantly affects middle-aged Black or African American women, often presenting without symptoms, which may delay diagnosis and treatment. The study underscores the need for a specific ICD-10 code for better epidemiological studies.
research Diffuse Gastrointestinal Polyposis With Skin, Hair, and Nail Changes
This report describes a case of Cronkhite-Canada syndrome diagnosed in a 54-year-old man with symptoms including gastrointestinal polyps, alopecia, skin hyperpigmentation, and severe diarrhea, who experienced significant symptom improvement with azathioprine.
research Endocrine effects of long-term calcineurin inhibitor use in solid organ transplant recipients
The authors concluded that incorporating routine endocrinology consultations into transplant care could address CNI-related endocrine toxicities, but prospective studies are needed to assess the impact on graft and patient survival.
research Impact of CDK4/6 inhibitors on health-related quality of life outcomes in patients with metastatic breast cancer: A systematic review and meta-analysis
This study concluded that while CDK4/6 inhibitors, used to treat HR+ HER2- metastatic breast cancer, generally did not worsen health-related quality of life, they were associated with increased patient-reported issues like diarrhea and hair loss upset.
research Direct-to-Consumer Teledermatology Growth: A Review and Outlook for the Future
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.